SPHKAP[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	ABCA12, ABCB6 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC126806461, LOC126806467 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	OR6B3, OTOS +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	AAMP, ABCB6 +986 more	Copy number gain	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	ACKR3, AGAP1 +393 more	Copy number loss	See cases	GPathogenic
Select item 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	LOC122861320, LOC122889004 +347 more	Copy number loss	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	ACKR3, AGAP1 +630 more	Copy number gain	See cases	GPathogenic
Select item 145863	GRCh38/hg38 2q36.3(chr2:227943840-228950413)x1	LINC01807, LOC126806542 +6 more	Copy number loss	See cases	GLikely benign
Select item 788963	NM_001142644.2(SPHKAP):c.4972G>C (p.Val1658Leu)	SPHKAP (V1658L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2374825	NM_001142644.2(SPHKAP):c.4910G>T (p.Gly1637Val)	SPHKAP (G1608V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2497699	NM_001142644.2(SPHKAP):c.4889G>A (p.Trp1630Ter)	SPHKAP (W1601* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 771702	NM_001142644.2(SPHKAP):c.4771G>A (p.Glu1591Lys)	SPHKAP (E1591K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 713062	NM_001142644.2(SPHKAP):c.4721+9C>A	SPHKAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2243427	NM_001142644.2(SPHKAP):c.4706C>A (p.Ser1569Tyr)	SPHKAP (S1569Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2250518	NM_001142644.2(SPHKAP):c.4655C>T (p.Thr1552Ile)	SPHKAP (T1552I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2527973	NM_001142644.2(SPHKAP):c.4525C>A (p.Pro1509Thr)	SPHKAP (P1509T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244053	NM_001142644.2(SPHKAP):c.4454G>A (p.Ser1485Asn)	SPHKAP (S1485N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	ALPG, ALPI +309 more	Copy number gain	See cases	GPathogenic
Select item 2312315	NM_001142644.2(SPHKAP):c.4445A>G (p.His1482Arg)	SPHKAP (H1482R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478845	NM_001142644.2(SPHKAP):c.4348A>G (p.Ser1450Gly)	SPHKAP (S1450G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2651968	NM_001142644.2(SPHKAP):c.4320T>G (p.Ala1440=)	SPHKAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2592871	NM_001142644.2(SPHKAP):c.4268C>T (p.Ser1423Leu)	SPHKAP (S1423L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471540	NM_001142644.2(SPHKAP):c.4252A>G (p.Arg1418Gly)	SPHKAP (R1418G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464215	NM_001142644.2(SPHKAP):c.4166A>G (p.Lys1389Arg)	SPHKAP (K1389R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467775	NM_001142644.2(SPHKAP):c.4054G>C (p.Ala1352Pro)	SPHKAP (A1352P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467774	NM_001142644.2(SPHKAP):c.4046A>G (p.Asn1349Ser)	SPHKAP (N1349S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351287	NM_001142644.2(SPHKAP):c.4012G>C (p.Gly1338Arg)	SPHKAP (G1338R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2651969	NM_001142644.2(SPHKAP):c.3982G>A (p.Ala1328Thr)	SPHKAP (A1328T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2552765	NM_001142644.2(SPHKAP):c.3926C>T (p.Thr1309Met)	SPHKAP (T1309M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484150	NM_001142644.2(SPHKAP):c.3893C>A (p.Thr1298Asn)	SPHKAP (T1298N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228285	NM_001142644.2(SPHKAP):c.3839C>T (p.Ala1280Val)	SPHKAP (A1280V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232398	NM_001142644.2(SPHKAP):c.3676C>T (p.Pro1226Ser)	SPHKAP (P1226S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589160	NM_001142644.2(SPHKAP):c.3641G>A (p.Arg1214Gln)	SPHKAP (R1214Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227447	NM_001142644.2(SPHKAP):c.3629C>A (p.Ala1210Asp)	SPHKAP (A1210D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390415	NM_001142644.2(SPHKAP):c.3625A>G (p.Ser1209Gly)	SPHKAP (S1209G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2544834	NM_001142644.2(SPHKAP):c.3615C>G (p.Asp1205Glu)	SPHKAP (D1205E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2472848	NM_001142644.2(SPHKAP):c.3607G>A (p.Glu1203Lys)	SPHKAP (E1203K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216560	NM_001142644.2(SPHKAP):c.3604A>G (p.Ile1202Val)	SPHKAP (I1202V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610030	NM_001142644.2(SPHKAP):c.3500C>T (p.Ala1167Val)	SPHKAP (A1167V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301144	NM_001142644.2(SPHKAP):c.3487G>A (p.Ala1163Thr)	SPHKAP (A1163T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516329	NM_001142644.2(SPHKAP):c.3326C>T (p.Pro1109Leu)	SPHKAP (P1109L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291263	NM_001142644.2(SPHKAP):c.3293A>G (p.Asn1098Ser)	SPHKAP (N1098S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411547	NM_001142644.2(SPHKAP):c.3230G>A (p.Arg1077Gln)	SPHKAP (R1077Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351665	NM_001142644.2(SPHKAP):c.3223T>G (p.Trp1075Gly)	SPHKAP (W1075G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314689	NM_001142644.2(SPHKAP):c.3209T>C (p.Leu1070Pro)	SPHKAP (L1070P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231109	NM_001142644.2(SPHKAP):c.3182C>T (p.Ala1061Val)	SPHKAP (A1061V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472145	NM_001142644.2(SPHKAP):c.3144C>G (p.Asn1048Lys)	SPHKAP (N1048K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370719	NM_001142644.2(SPHKAP):c.3139A>G (p.Met1047Val)	SPHKAP (M1047V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227181	NM_001142644.2(SPHKAP):c.3065T>C (p.Val1022Ala)	SPHKAP (V1022A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559115	NM_001142644.2(SPHKAP):c.3061G>A (p.Val1021Ile)	SPHKAP (V1021I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508100	NM_001142644.2(SPHKAP):c.3020C>T (p.Thr1007Met)	SPHKAP (T1007M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595332	NM_001142644.2(SPHKAP):c.2996G>A (p.Arg999Gln)	SPHKAP (R999Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309931	NM_001142644.2(SPHKAP):c.2744C>T (p.Thr915Met)	SPHKAP (T915M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2454569	NM_001142644.2(SPHKAP):c.2701C>A (p.Leu901Met)	SPHKAP (L901M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298732	NM_001142644.2(SPHKAP):c.2564C>G (p.Ala855Gly)	SPHKAP (A855G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207837	NM_001142644.2(SPHKAP):c.2527A>G (p.Thr843Ala)	SPHKAP (T843A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551144	NM_001142644.2(SPHKAP):c.2453A>G (p.His818Arg)	SPHKAP (H818R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598082	NM_001142644.2(SPHKAP):c.2447G>A (p.Arg816His)	SPHKAP (R816H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2290457	NM_001142644.2(SPHKAP):c.2443T>A (p.Ser815Thr)	SPHKAP (S815T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321014	NM_001142644.2(SPHKAP):c.2438A>T (p.Gln813Leu)	SPHKAP (Q813L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592886	NM_001142644.2(SPHKAP):c.2408G>A (p.Gly803Asp)	SPHKAP (G803D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479336	NM_001142644.2(SPHKAP):c.2408G>T (p.Gly803Val)	SPHKAP (G803V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206331	NM_001142644.2(SPHKAP):c.2306C>T (p.Ser769Phe)	SPHKAP (S769F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278890	NM_001142644.2(SPHKAP):c.2182G>A (p.Val728Ile)	SPHKAP (V728I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524354	NM_001142644.2(SPHKAP):c.2159C>T (p.Thr720Met)	SPHKAP (T720M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214667	NM_001142644.2(SPHKAP):c.2073C>A (p.Asp691Glu)	SPHKAP (D691E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347753	NM_001142644.2(SPHKAP):c.2006A>G (p.His669Arg)	SPHKAP (H669R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 932710	NM_001142644.2(SPHKAP):c.1968C>G (p.Thr656=)	SPHKAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2604821	NM_001142644.2(SPHKAP):c.1835A>G (p.Lys612Arg)	SPHKAP (K612R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212302	NM_001142644.2(SPHKAP):c.1769C>T (p.Pro590Leu)	SPHKAP (P590L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2207026	NM_001142644.2(SPHKAP):c.1594A>G (p.Ser532Gly)	SPHKAP (S532G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2406996	NM_001142644.2(SPHKAP):c.1577C>T (p.Ser526Leu)	SPHKAP (S526L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322528	NM_001142644.2(SPHKAP):c.1528A>C (p.Ile510Leu)	SPHKAP (I510L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409920	NM_001142644.2(SPHKAP):c.1511C>A (p.Ala504Asp)	SPHKAP (A504D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206384	NM_001142644.2(SPHKAP):c.1502C>G (p.Ala501Gly)	SPHKAP (A501G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334148	NM_001142644.2(SPHKAP):c.1453G>A (p.Gly485Arg)	SPHKAP (G485R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306176	NM_001142644.2(SPHKAP):c.1408T>C (p.Trp470Arg)	SPHKAP (W470R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398849	NM_001142644.2(SPHKAP):c.1387C>T (p.Pro463Ser)	SPHKAP (P463S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604393	NM_001142644.2(SPHKAP):c.1070G>A (p.Cys357Tyr)	SPHKAP (C357Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238728	NM_001142644.2(SPHKAP):c.926A>T (p.Lys309Ile)	SPHKAP (K309I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382725	NM_001142644.2(SPHKAP):c.884C>G (p.Ala295Gly)	SPHKAP (A295G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403728	NM_001142644.2(SPHKAP):c.830C>A (p.Pro277His)	SPHKAP (P277H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2510079	NM_001142644.2(SPHKAP):c.820A>G (p.Asn274Asp)	SPHKAP (N274D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468493	NM_001142644.2(SPHKAP):c.736A>G (p.Ser246Gly)	SPHKAP (S246G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206871	NM_001142644.2(SPHKAP):c.698A>G (p.Asp233Gly)	SPHKAP (D233G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2211079	NM_001142644.2(SPHKAP):c.583A>G (p.Asn195Asp)	SPHKAP (N195D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348231	NM_001142644.2(SPHKAP):c.500G>A (p.Ser167Asn)	SPHKAP (S167N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599814	NM_001142644.2(SPHKAP):c.488A>G (p.Asn163Ser)	SPHKAP (N163S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325565	NM_001142644.2(SPHKAP):c.410G>C (p.Gly137Ala)	SPHKAP (G137A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205495	NM_001142644.2(SPHKAP):c.313G>C (p.Val105Leu)	SPHKAP (V105L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541746	NM_001142644.2(SPHKAP):c.225C>A (p.Asp75Glu)	SPHKAP (D75E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397340	NM_001142644.2(SPHKAP):c.130T>C (p.Cys44Arg)	SPHKAP (C44R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472572	NM_001142644.2(SPHKAP):c.106G>A (p.Gly36Ser)	SPHKAP (G36S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2685881	GRCh37/hg19 2q36.3(chr2:228355418-229592972)x3	AGFG1, C2orf83 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2685879	GRCh37/hg19 2q36.2-37.3(chr2:225995545-237594511)x3	ACKR3, AGAP1 +79 more	Copy number gain	not provided	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2684964	GRCh37/hg19 2q36.3(chr2:228784976-229529739)x1	DAW1, SPHKAP	Copy number loss	not provided	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic

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