UNKL[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59410	GRCh38/hg38 16p13.3(chr16:23141-1712523)x1	ANTKMT, ARHGDIG +194 more	Copy number loss	See cases	GPathogenic
Select item 59409	GRCh38/hg38 16p13.3(chr16:23141-1773349)x1	ANTKMT, ARHGDIG +210 more	Copy number loss	See cases	GPathogenic
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	LOC112340388, LOC112441449 +821 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	LOC130058535, LOC130058536 +916 more	Copy number gain	See cases	GPathogenic
Select item 148760	GRCh38/hg38 16p13.3(chr16:46722-1867327)x1	ANTKMT, ARHGDIG +224 more	Copy number loss	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 145576	GRCh38/hg38 16p13.3(chr16:46766-1544014)x1	ANTKMT, ARHGDIG +179 more	Copy number loss	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	LOC105371046, LOC105371050 +842 more	Copy number gain	See cases	GPathogenic
Select item 59411	GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	ANTKMT, ARHGDIG +253 more	Copy number loss	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 59425	GRCh38/hg38 16p13.3(chr16:105429-1499893)x1	ANTKMT, ARHGDIG +164 more	Copy number loss	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	LOC130058149, LOC130058150 +925 more	Copy number gain	See cases	GPathogenic
Select item 58600	GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3	BAIAP3, BRICD5 +162 more	Copy number gain	See cases	GPathogenic
Select item 146966	GRCh38/hg38 16p13.3(chr16:1257541-1436509)x1	BAIAP3, CCDC154 +32 more	Copy number loss	See cases	GBenign
Select item 58602	GRCh38/hg38 16p13.3(chr16:1278821-1919148)x3	MAPK8IP3, MAPK8IP3-AS1 +88 more	Copy number gain	See cases	GPathogenic
Select item 886151	NM_032520.5(GNPTG):c.*165A>T	GNPTG, UNKL	Single nucleotide variant (3 prime UTR variant +1 more)	GNPTG-mucolipidosis	GUncertain significance
Select item 317899	NM_032520.5(GNPTG):c.*205T>C	GNPTG, UNKL	Single nucleotide variant (3 prime UTR variant +1 more)	GNPTG-mucolipidosis	GUncertain significance
Select item 317900	NM_032520.5(GNPTG):c.*224T>C	GNPTG, UNKL	Single nucleotide variant (3 prime UTR variant +1 more)	GNPTG-mucolipidosis +1 more	GBenign/Likely benign
Select item 886152	NM_032520.5(GNPTG):c.*233C>T	GNPTG, UNKL	Single nucleotide variant (3 prime UTR variant +1 more)	GNPTG-mucolipidosis	GUncertain significance
Select item 317901	NM_032520.5(GNPTG):c.*257dup	GNPTG, UNKL	Duplication (3 prime UTR variant +1 more)	GNPTG-mucolipidosis	GUncertain significance
Select item 2362741	NM_001372107.1(UNKL):c.2159C>T (p.Ala720Val)	UNKL (A169V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3331127	NM_001372107.1(UNKL):c.2150C>T (p.Ala717Val)	UNKL (A667V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3331113	NM_001372107.1(UNKL):c.2144C>T (p.Pro715Leu)	UNKL (P665L +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3186745	NM_001372107.1(UNKL):c.2090A>T (p.Glu697Val)	UNKL (E193V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3331123	NM_001372107.1(UNKL):c.2077G>A (p.Val693Met)	UNKL (C191Y +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331119	NM_001372107.1(UNKL):c.2063G>A (p.Arg688His)	UNKL (R137H +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2342508	NM_001372107.1(UNKL):c.1876A>G (p.Lys626Glu)	UNKL (K125E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277871	NM_001372107.1(UNKL):c.1846G>C (p.Asp616His)	UNKL (D112H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331114	NM_001372107.1(UNKL):c.1838G>A (p.Arg613His)	UNKL (R112H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590708	NM_001372107.1(UNKL):c.1837C>T (p.Arg613Cys)	UNKL (R112C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186744	NM_001372107.1(UNKL):c.1832G>T (p.Arg611Leu)	UNKL (R107L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204277	NM_001372107.1(UNKL):c.1811A>T (p.Glu604Val)	UNKL (E604V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331117	NM_001372107.1(UNKL):c.1808G>T (p.Arg603Leu)	UNKL (R99L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468530	NM_001372107.1(UNKL):c.1734C>G (p.Asp578Glu)	UNKL (D74E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523888	NM_001372107.1(UNKL):c.1699G>A (p.Gly567Arg)	UNKL (G63R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186742	NM_001372107.1(UNKL):c.1693C>T (p.Pro565Ser)	UNKL (P61S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331115	NM_001372107.1(UNKL):c.1682C>T (p.Ser561Leu)	UNKL (S60L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306397	NM_001372107.1(UNKL):c.1672C>T (p.Pro558Ser)	UNKL (P54S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186740	NM_001372107.1(UNKL):c.1655T>C (p.Ile552Thr)	UNKL (I48T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398626	NM_001372107.1(UNKL):c.1622T>C (p.Val541Ala)	UNKL (V40A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186739	NM_001372107.1(UNKL):c.1621G>A (p.Val541Ile)	UNKL (V541I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186738	NM_001372107.1(UNKL):c.1617C>G (p.Asp539Glu)	UNKL (D35E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186737	NM_001372107.1(UNKL):c.1603G>A (p.Gly535Arg)	UNKL (G31R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210971	NM_001372107.1(UNKL):c.1561G>T (p.Ala521Ser)	UNKL (A521S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2332587	NM_001372107.1(UNKL):c.1544C>T (p.Pro515Leu)	UNKL (P515L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2328686	NM_001372107.1(UNKL):c.1537T>G (p.Ser513Ala)	UNKL (S12A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2466491	NM_001372107.1(UNKL):c.1487C>T (p.Pro496Leu)	UNKL (P496L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2204702	NM_001372107.1(UNKL):c.1459G>A (p.Gly487Ser)	UNKL (G487S)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3186736	NM_001372107.1(UNKL):c.1454C>T (p.Pro485Leu)	UNKL (P485L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3186735	NM_001372107.1(UNKL):c.1451C>T (p.Ser484Leu)	UNKL (S484L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3186734	NM_001372107.1(UNKL):c.1448C>A (p.Thr483Asn)	UNKL (T483N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3186733	NM_001372107.1(UNKL):c.1442C>T (p.Ala481Val)	UNKL (A481V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2331751	NM_001372107.1(UNKL):c.1430C>T (p.Ser477Leu)	UNKL (S477L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2410500	NM_001372107.1(UNKL):c.1390G>A (p.Ala464Thr)	UNKL (A464T)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2352822	NM_001372107.1(UNKL):c.1367C>T (p.Ser456Leu)	UNKL (S456L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2360025	NM_001372107.1(UNKL):c.1304C>A (p.Ala435Glu)	UNKL (A435E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2350526	NM_001372107.1(UNKL):c.1271C>T (p.Ala424Val)	UNKL (A424V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2462833	NM_001372107.1(UNKL):c.1240A>G (p.Ser414Gly)	UNKL (S414G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2510654	NM_001372107.1(UNKL):c.1237G>A (p.Ala413Thr)	UNKL (A413T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3186731	NM_001372107.1(UNKL):c.1220C>T (p.Ala407Val)	UNKL (A407V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186730	NM_001372107.1(UNKL):c.1217G>A (p.Arg406His)	UNKL (R406H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361380	NM_001372107.1(UNKL):c.1216C>T (p.Arg406Cys)	UNKL (R406C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401885	NM_001372107.1(UNKL):c.1192A>C (p.Thr398Pro)	UNKL (T398P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343317	NM_001372107.1(UNKL):c.1180A>G (p.Ser394Gly)	UNKL (S394G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3331120	NM_001372107.1(UNKL):c.1177G>A (p.Gly393Ser)	UNKL (G393S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386337	NM_001372107.1(UNKL):c.1168G>A (p.Ala390Thr)	UNKL (A390T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2508540	NM_001372107.1(UNKL):c.1156C>G (p.Leu386Val)	UNKL (L386V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389480	NM_001372107.1(UNKL):c.1132G>A (p.Val378Met)	UNKL (V378M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331126	NM_001372107.1(UNKL):c.1118C>T (p.Pro373Leu)	UNKL (P373L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600511	NM_001372107.1(UNKL):c.1099G>A (p.Val367Met)	UNKL (V367M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331122	NM_001372107.1(UNKL):c.1058C>G (p.Pro353Arg)	UNKL (P353R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590487	NM_001372107.1(UNKL):c.1048G>A (p.Glu350Lys)	UNKL (E350K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220211	NM_001372107.1(UNKL):c.1043C>T (p.Pro348Leu)	UNKL (P348L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186728	NM_001372107.1(UNKL):c.1030C>T (p.Arg344Trp)	UNKL (R344W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605861	NM_001372107.1(UNKL):c.1022A>G (p.Asn341Ser)	UNKL (N341S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349810	NM_001372107.1(UNKL):c.1001C>T (p.Thr334Met)	UNKL (T334M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331124	NM_001372107.1(UNKL):c.976C>T (p.Leu326Phe)	UNKL (L326F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331125	NM_001372107.1(UNKL):c.905G>C (p.Arg302Pro)	UNKL (R302P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286766	NM_001372107.1(UNKL):c.883C>T (p.Arg295Cys)	UNKL (R295C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215137	NM_001372107.1(UNKL):c.830C>T (p.Thr277Met)	UNKL (T277M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186752	NM_001372107.1(UNKL):c.799G>A (p.Gly267Ser)	UNKL (G267S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331128	NM_001372107.1(UNKL):c.788G>A (p.Arg263His)	UNKL (R263H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186751	NM_001372107.1(UNKL):c.782C>T (p.Pro261Leu)	UNKL (P261L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618598	NM_001372107.1(UNKL):c.780A>T (p.Glu260Asp)	UNKL (E260D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225272	NM_001372107.1(UNKL):c.774G>T (p.Trp258Cys)	UNKL (W258C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282766	NM_001372107.1(UNKL):c.772T>C (p.Trp258Arg)	UNKL (W258R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229646	NM_001372107.1(UNKL):c.770A>G (p.Glu257Gly)	UNKL (E257G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331118	NM_001372107.1(UNKL):c.766G>A (p.Asp256Asn)	UNKL (D256N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186750	NM_001372107.1(UNKL):c.762C>A (p.His254Gln)	UNKL (H254Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237839	NM_001372107.1(UNKL):c.761A>T (p.His254Leu)	UNKL (H254L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331121	NM_001372107.1(UNKL):c.758A>T (p.Lys253Met)	UNKL (K253M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331116	NM_001372107.1(UNKL):c.757A>G (p.Lys253Glu)	UNKL (K253E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186748	NM_001372107.1(UNKL):c.755T>C (p.Val252Ala)	UNKL (V252A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186747	NM_001372107.1(UNKL):c.753T>C (p.Ser251=)	UNKL	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2616760	NM_001372107.1(UNKL):c.743C>T (p.Pro248Leu)	UNKL (P248L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186746	NM_001372107.1(UNKL):c.722G>A (p.Arg241Gln)	UNKL (R241Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258952	NM_001372107.1(UNKL):c.698G>A (p.Arg233Gln)	UNKL (R233Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343901	NM_001372107.1(UNKL):c.662G>A (p.Arg221His)	UNKL (R221H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323323	NM_001372107.1(UNKL):c.596A>G (p.Gln199Arg)	UNKL (Q199R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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