C3661900[trait identifier] AND "Martin Pollak Laboratory, Beth Israel - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 64462	NM_004070.4(CLCNKA):c.74G>A (p.Cys25Tyr)	CLCNKA (C25Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64463	NM_004070.4(CLCNKA):c.753G>C (p.Arg251=)	CLCNKA, LOC106501712	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 64464	NM_004070.4(CLCNKA):c.754C>T (p.Leu252Phe)	CLCNKA, LOC106501712 (L252F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64459	NM_004070.4(CLCNKA):c.1147G>T (p.Asp383Tyr)	CLCNKA, LOC106501712 (D383Y +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 4B	GUncertain significance
Select item 64460	NM_004070.4(CLCNKA):c.1327G>A (p.Ala443Thr)	CLCNKA, LOC106501712 (A443T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64461	NM_004070.4(CLCNKA):c.1977A>G (p.Thr659=)	LOC106501712, CLCNKA	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 64380	NM_000085.5(CLCNKB):c.23G>A (p.Arg8His)	CLCNKB (R8H)	Single nucleotide variant (missense variant)	Bartter disease type 4B +1 more	GUncertain significance
Select item 64381	NM_000085.5(CLCNKB):c.71C>T (p.Pro24Leu)	CLCNKB (P24L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 7593	NM_000085.5(CLCNKB):c.1312C>T (p.Arg438Cys)	CLCNKB, LOC106501713 (R438C +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 4B +2 more	GPathogenic
Select item 64377	NM_000085.5(CLCNKB):c.1675G>A (p.Ala559Thr)	CLCNKB, LOC106501713 (A559T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64378	NM_000085.5(CLCNKB):c.1944T>G (p.Phe648Leu)	CLCNKB, LOC106501713 (F648L +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 4B +1 more	GUncertain significance
Select item 64379	NM_000085.5(CLCNKB):c.2002G>C (p.Val668Leu)	LOC106501713, CLCNKB (V668L +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 4B +1 more	GUncertain significance
Select item 64478	NM_148960.3(CLDN19):c.671T>A (p.Val224Glu)	CLDN19 (V224E)	Single nucleotide variant (3 prime UTR variant +1 more)	Renal hypomagnesemia 5 with ocular involvement +1 more	GUncertain significance
Select item 64480	NM_148960.3(CLDN19):c.153G>T (p.Trp51Cys)	CLDN19 (W51C)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 5 with ocular involvement +1 more	GUncertain significance
Select item 64554	NM_005070.4(SLC4A3):c.2233G>A (p.Val745Met)	SLC4A3 (V745M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 64556	NM_005070.4(SLC4A3):c.3066C>T (p.Ser1022=)	SLC4A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 64399	NM_000316.3(PTH1R):c.316C>T (p.Arg106Cys)	PTH1R (R106C)	Single nucleotide variant (missense variant)	Chondrodysplasia Blomstrand type +1 more	GLikely benign
Select item 64402	NM_000316.3(PTH1R):c.805C>T (p.Pro269Ser)	PTH1R (P269S)	Single nucleotide variant (missense variant)	Primary failure of tooth eruption +3 more	GUncertain significance
Select item 64396	NM_000316.3(PTH1R):c.1155C>T (p.Leu385=)	PTH1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 64398	NM_000316.3(PTH1R):c.1304C>T (p.Thr435Met)	PTH1R (T435M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 64440	NM_000388.4(CASR):c.99C>T (p.Ile33=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +2 more	GLikely benign
Select item 64437	NM_000388.4(CASR):c.501T>C (p.Tyr167=)	CASR	Single nucleotide variant (synonymous variant)	Autosomal dominant hypocalcemia 1 +1 more	GLikely benign
Select item 64438	NM_000388.4(CASR):c.740C>T (p.Ser247Phe)	CASR (S247F)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 64439	NM_000388.4(CASR):c.920T>C (p.Met307Thr)	CASR (M307T)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance
Select item 64427	NM_000388.4(CASR):c.1192G>A (p.Asp398Asn)	CASR (D398N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 64428	NM_000388.4(CASR):c.1209T>C (p.Ser403=)	CASR	Single nucleotide variant (synonymous variant)	Autosomal dominant hypocalcemia 1 +2 more	GLikely benign
Select item 64429	NM_000388.4(CASR):c.1395G>A (p.Arg465=)	CASR	Single nucleotide variant (synonymous variant)	Autosomal dominant hypocalcemia 1 +2 more	GLikely benign
Select item 64430	NM_000388.4(CASR):c.1629C>T (p.Ser543=)	CASR	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 64431	NM_000388.4(CASR):c.1668G>A (p.Glu556=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +3 more	GLikely benign
Select item 64432	NM_000388.4(CASR):c.2597G>T (p.Arg866Leu)	CASR (R866L +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance
Select item 64433	NM_000388.4(CASR):c.2777A>G (p.Gln926Arg)	CASR (Q926R +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +3 more	GConflicting classifications of pathogenicity
Select item 64576	NM_000203.4(IDUA):c.199A>T (p.Ser67Cys)	IDUA, SLC26A1 (S67C)	Single nucleotide variant (3 prime UTR variant +3 more)	Hurler syndrome +1 more	GUncertain significance
Select item 64588	NM_022042.4(SLC26A1):c.1906G>T (p.Asp636Tyr)	IDUA, SLC26A1 (D636Y)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 64587	NM_000203.5(IDUA):c.299+1104G>A	IDUA, SLC26A1 (T629M)	Single nucleotide variant (missense variant +1 more)	Hurler syndrome	GLikely benign
Select item 64586	NM_000203.5(IDUA):c.299+1279C>T	IDUA, SLC26A1 (A571T)	Single nucleotide variant (missense variant +1 more)	Nephrolithiasis susceptibility caused by SLC26A1 +2 more	GConflicting classifications of pathogenicity
Select item 64585	NM_022042.4(SLC26A1):c.1685C>T (p.Thr562Met)	IDUA, SLC26A1 (T562M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 64584	NM_022042.4(SLC26A1):c.1633C>T (p.Pro545Ser)	SLC26A1, IDUA (P545S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 64583	NM_000203.5(IDUA):c.299+1368C>T	IDUA, SLC26A1 (R541H)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 64582	NM_022042.4(SLC26A1):c.1509C>T (p.Gly503=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 64581	NM_022042.4(SLC26A1):c.1459G>A (p.Glu487Lys)	SLC26A1, IDUA (E487K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 64580	NM_000203.5(IDUA):c.299+1542A>T	IDUA, SLC26A1 (L483Q)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 64579	NM_022042.4(SLC26A1):c.1406C>T (p.Ala469Val)	IDUA, SLC26A1 (A469V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 64578	NM_000203.5(IDUA):c.299+1627G>A	SLC26A1, IDUA (R455C)	Single nucleotide variant (missense variant +1 more)	Nephrolithiasis susceptibility caused by SLC26A1 +2 more	GConflicting classifications of pathogenicity
Select item 64577	NM_022042.4(SLC26A1):c.1043T>C (p.Leu348Pro)	IDUA, SLC26A1 (L348P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 64593	NM_022042.4(SLC26A1):c.760C>T (p.Arg254Cys)	IDUA, SLC26A1 (R254C)	Single nucleotide variant (missense variant +1 more)	Nephrolithiasis susceptibility caused by SLC26A1 +2 more	GConflicting classifications of pathogenicity
Select item 64592	NM_022042.4(SLC26A1):c.731T>C (p.Met244Thr)	IDUA, SLC26A1 (M244T)	Single nucleotide variant (missense variant +1 more)	Nephrolithiasis susceptibility caused by SLC26A1 +2 more	GUncertain significance
Select item 64591	NM_000203.5(IDUA):c.299+3322C>T	IDUA, SLC26A1 (G145S)	Single nucleotide variant (missense variant +1 more)	Hurler syndrome	GLikely benign
Select item 64590	NM_000203.5(IDUA):c.299+3399C>T	IDUA, SLC26A1 (R119Q)	Single nucleotide variant (missense variant +1 more)	Hurler syndrome +3 more	GConflicting classifications of pathogenicity
Select item 64589	NM_022042.4(SLC26A1):c.226G>A (p.Gly76Arg)	IDUA, SLC26A1 (G76R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 64383	NM_000112.4(SLC26A2):c.172C>T (p.Arg58Cys)	SLC26A2 (R58C)	Single nucleotide variant (missense variant)	Achondrogenesis, type IB +4 more	GConflicting classifications of pathogenicity
Select item 64493	NM_003052.5(SLC34A1):c.303G>A (p.Leu101=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 64494	NM_003052.5(SLC34A1):c.660C>G (p.Ala220=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 64520	NM_003052.5(SLC34A1):c.1432T>C (p.Phe478Leu)	SLC34A1 (F478L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64521	NM_003052.5(SLC34A1):c.1707G>T (p.Leu569=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 64522	NM_003052.5(SLC34A1):c.1739C>A (p.Pro580His)	SLC34A1 (P580H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64523	NM_003052.5(SLC34A1):c.1912C>T (p.Arg638Cys)	SLC34A1 (R638C)	Single nucleotide variant (missense variant)	Fanconi renotubular syndrome 2 +2 more	GUncertain significance
Select item 64536	NM_004752.4(GCM2):c.1277A>C (p.Tyr426Ser)	GCM2 (Y426S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64535	NM_004752.4(GCM2):c.1168T>C (p.Ser390Pro)	GCM2 (S390P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64544	NM_004752.4(GCM2):c.906A>T (p.Thr302=)	GCM2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 64543	NM_004752.4(GCM2):c.852T>C (p.Asn284=)	GCM2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 64542	NM_004752.4(GCM2):c.833C>T (p.Ala278Val)	GCM2 (A278V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64541	NM_004752.4(GCM2):c.831G>T (p.Leu277Phe)	GCM2 (L277F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64540	NM_004752.4(GCM2):c.782A>T (p.Tyr261Phe)	GCM2 (Y261F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64539	NM_004752.4(GCM2):c.665A>T (p.Glu222Val)	GCM2 (E222V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64538	NM_004752.4(GCM2):c.477T>C (p.His159=)	GCM2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 64537	NM_004752.4(GCM2):c.303G>T (p.Leu101=)	GCM2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 64567	NM_018646.6(TRPV6):c.402C>T (p.Ala134=)	TRPV6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 64570	NM_019841.7(TRPV5):c.1968G>A (p.Lys656=)	TRPV5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 64571	NM_019841.7(TRPV5):c.33C>T (p.Pro11=)	TRPV5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 64499	NM_001177316.2(SLC34A3):c.218T>C (p.Val73Ala)	SLC34A3 (V73A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64500	NM_001177316.2(SLC34A3):c.245G>T (p.Ser82Ile)	SLC34A3 (S82I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64501	NM_001177316.2(SLC34A3):c.439G>A (p.Ala147Thr)	SLC34A3 (A147T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64502	NM_001177316.2(SLC34A3):c.472C>T (p.Pro158Ser)	SLC34A3 (P158S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64503	NM_001177316.2(SLC34A3):c.516C>G (p.Thr172=)	SLC34A3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 64504	NM_001177316.2(SLC34A3):c.572G>A (p.Gly191Asp)	SLC34A3 (G191D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64505	NM_001177316.2(SLC34A3):c.585C>T (p.His195=)	SLC34A3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 64497	NM_001177316.2(SLC34A3):c.1051C>T (p.Arg351Cys)	SLC34A3 (R351C)	Single nucleotide variant (missense variant)	Autosomal recessive hypophosphatemic bone disease	GUncertain significance
Select item 64498	NM_001177316.2(SLC34A3):c.1143G>A (p.Ala381=)	SLC34A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 64387	NM_153766.3(KCNJ1):c.*5G>A	KCNJ1	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 64389	NM_153766.3(KCNJ1):c.1028A>C (p.Glu343Ala)	KCNJ1 (E343A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64388	NM_153766.3(KCNJ1):c.1027G>A (p.Glu343Lys)	KCNJ1 (E343K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64393	NM_153766.3(KCNJ1):c.719A>C (p.Asn240Thr)	KCNJ1 (N240T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64392	NM_153766.3(KCNJ1):c.262A>G (p.Lys88Glu)	KCNJ1 (K88E +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 64391	NM_153766.3(KCNJ1):c.242A>G (p.Tyr81Cys)	KCNJ1 (Y81C +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2 +1 more	GUncertain significance
Select item 64390	NM_153766.3(KCNJ1):c.98A>C (p.Glu33Ala)	KCNJ1 (E33A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64575	NM_020638.3(FGF23):c.623A>G (p.Gln208Arg)	FGF23 (Q208R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64528	NM_001288772.2(PIK3C2G):c.1077A>T (p.Lys359Asn)	PIK3C2G (K359N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64529	NM_001288772.2(PIK3C2G):c.2714T>G (p.Leu905Arg)	PIK3C2G (L864R +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 64425	NM_000376.3(VDR):c.259A>G (p.Ile87Val)	VDR (I87V +1 more)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets type II with alopecia +1 more	GUncertain significance
Select item 64424	NM_000376.3(VDR):c.238C>A (p.Arg80=)	VDR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 64550	NM_004795.4(KL):c.387C>T (p.Tyr129=)	KL	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GBenign/Likely benign
Select item 64551	NM_004795.4(KL):c.497A>G (p.Asn166Ser)	KL (N166S)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GUncertain significance
Select item 64552	NM_004795.4(KL):c.639C>A (p.Ala213=)	KL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 64548	NM_004795.4(KL):c.2862G>A (p.Pro954=)	KL	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GConflicting classifications of pathogenicity
Select item 64492	NM_006984.5(CLDN10):c.505G>T (p.Ala169Ser)	CLDN10 (A148S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64405	NM_000338.3(SLC12A1):c.13A>G (p.Asn5Asp)	SLC12A1 (N5D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64410	NM_000338.3(SLC12A1):c.386C>T (p.Pro129Leu)	SLC12A1 (P129L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64411	NM_000338.3(SLC12A1):c.503A>G (p.Glu168Gly)	SLC12A1 (E168G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64412	NM_000338.3(SLC12A1):c.510T>A (p.Asp170Glu)	SLC12A1 (D170E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64404	NM_000338.3(SLC12A1):c.1149C>T (p.Val383=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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