LOC130058166[gene] - ClinVar

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Items: 72

	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	ABAT, ABCA3 +822 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	EEF2KMT, ELOB +917 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	ABAT, ABCA3 +843 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	ABAT, ABCA3 +926 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 58602	GRCh38/hg38 16p13.3(chr16:1278821-1919148)x3	MAPK8IP3, MAPK8IP3-AS1 +88 more	Copy number gain	See cases	GPathogenic
Select item 1181429	NM_001287.6(CLCN7):c.141+57GC[4]	CLCN7, LOC130058166	Microsatellite (intron variant)	not provided	GBenign
Select item 1164119	NM_001287.6(CLCN7):c.141+19C>G	CLCN7, LOC130058166	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1672546	NM_001287.6(CLCN7):c.141+11G>A	CLCN7, LOC130058166	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2129683	NM_001287.6(CLCN7):c.141+9G>C	CLCN7, LOC130058166	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1644697	NM_001287.6(CLCN7):c.141+8C>A	CLCN7, LOC130058166	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 736774	NM_001287.6(CLCN7):c.141+8C>G	CLCN7, LOC130058166	Single nucleotide variant (intron variant)	Osteopetrosis +1 more	GConflicting classifications of pathogenicity
Select item 1427008	NM_001287.6(CLCN7):c.141+6G>A	CLCN7, LOC130058166	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1489996	NM_001287.6(CLCN7):c.141+1G>T	CLCN7, LOC130058166	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 871455	NM_001287.6(CLCN7):c.139C>T (p.Gln47Ter)	LOC130058166, CLCN7 (Q47*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1638318	NM_001287.6(CLCN7):c.138C>A (p.Arg46=)	CLCN7, LOC130058166	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013823	NM_001287.6(CLCN7):c.136C>T (p.Arg46Cys)	CLCN7, LOC130058166 (R46C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 317966	NM_001287.6(CLCN7):c.132T>A (p.Ala44=)	CLCN7, LOC130058166	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2011959	NM_001287.6(CLCN7):c.131C>G (p.Ala44Gly)	CLCN7, LOC130058166 (A44G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 887594	NM_001287.6(CLCN7):c.130G>A (p.Ala44Thr)	CLCN7, LOC130058166 (A44T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 193203	NM_001287.6(CLCN7):c.126T>C (p.Pro42=)	CLCN7, LOC130058166	Single nucleotide variant (synonymous variant)	Osteopetrosis +5 more	GBenign
Select item 2106977	NM_001287.6(CLCN7):c.123G>A (p.Gly41=)	LOC130058166, CLCN7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1057536	NM_001287.6(CLCN7):c.121G>C (p.Gly41Arg)	CLCN7, LOC130058166 (G41R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 317967	NM_001287.6(CLCN7):c.120T>A (p.Ala40=)	CLCN7, LOC130058166	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2312878	NM_001287.6(CLCN7):c.118G>A (p.Ala40Thr)	CLCN7, LOC130058166 (A40T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1542414	NM_001287.6(CLCN7):c.117G>C (p.Gly39=)	CLCN7, LOC130058166	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014536	NM_001287.6(CLCN7):c.115G>C (p.Gly39Arg)	CLCN7, LOC130058166 (G39R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1717986	NM_001287.6(CLCN7):c.115G>A (p.Gly39Arg)	CLCN7, LOC130058166 (G39R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1640131	NM_001287.6(CLCN7):c.108G>A (p.Leu36=)	CLCN7, LOC130058166	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 887595	NM_001287.6(CLCN7):c.108G>T (p.Leu36=)	CLCN7, LOC130058166	Single nucleotide variant (synonymous variant)	Osteopetrosis +1 more	GConflicting classifications of pathogenicity
Select item 2018117	NM_001287.6(CLCN7):c.105_106delinsTG (p.Leu36Val)	CLCN7, LOC130058166 (L36V)	Indel (missense variant)	not provided	GUncertain significance
Select item 1533871	NM_001287.6(CLCN7):c.105G>A (p.Pro35=)	CLCN7, LOC130058166	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844989	NM_001287.6(CLCN7):c.104C>T (p.Pro35Leu)	CLCN7, LOC130058166 (P35L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3031032	NM_001287.6(CLCN7):c.102G>A (p.Thr34=)	CLCN7, LOC130058166	Single nucleotide variant (synonymous variant)	CLCN7-related disorder	GLikely benign
Select item 1417377	NM_001287.6(CLCN7):c.99G>T (p.Gly33=)	CLCN7, LOC130058166	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 317969	NM_001287.6(CLCN7):c.95G>C (p.Gly32Ala)	CLCN7, LOC130058166 (G32A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 317968	NM_001287.6(CLCN7):c.95G>T (p.Gly32Val)	CLCN7, LOC130058166 (G32V)	Single nucleotide variant (missense variant)	Osteopetrosis +1 more	GConflicting classifications of pathogenicity
Select item 2965596	NM_001287.6(CLCN7):c.91G>A (p.Gly31Ser)	CLCN7, LOC130058166 (G31S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 317970	NM_001287.6(CLCN7):c.90C>T (p.Pro30=)	CLCN7, LOC130058166	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1496510	NM_001287.6(CLCN7):c.85C>G (p.Arg29Gly)	CLCN7, LOC130058166 (R29G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1387093	NM_001287.6(CLCN7):c.85C>T (p.Arg29Trp)	CLCN7, LOC130058166 (R29W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2604232	NM_001287.6(CLCN7):c.83C>A (p.Ala28Glu)	CLCN7, LOC130058166 (A28E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2010986	NM_001287.6(CLCN7):c.76A>C (p.Arg26=)	CLCN7, LOC130058166	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2741221	NM_001287.6(CLCN7):c.75G>T (p.Arg25=)	CLCN7, LOC130058166	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1396745	NM_001287.6(CLCN7):c.74G>A (p.Arg25Gln)	CLCN7, LOC130058166 (R25Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1655981	NM_001287.6(CLCN7):c.72G>A (p.Leu24=)	CLCN7, LOC130058166	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017984	NM_001287.6(CLCN7):c.66G>A (p.Pro22=)	CLCN7, LOC130058166	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858648	NM_001287.6(CLCN7):c.60_61inv (p.Ala21Pro)	CLCN7, LOC130058166 (A21P)	Inversion (missense variant)	not provided	GUncertain significance
Select item 1546438	NM_001287.6(CLCN7):c.54G>A (p.Glu18=)	CLCN7, LOC130058166	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2765864	NM_001287.6(CLCN7):c.51C>A (p.Asp17Glu)	CLCN7, LOC130058166 (D17E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1451555	NM_001287.6(CLCN7):c.48del (p.Asp16fs)	CLCN7, LOC130058166 (D16fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1480564	NM_001287.6(CLCN7):c.46G>T (p.Asp16Tyr)	CLCN7, LOC130058166 (D16Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1936940	NM_001287.6(CLCN7):c.44G>C (p.Arg15Pro)	CLCN7, LOC130058166 (R15P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2801054	NM_001287.6(CLCN7):c.43C>T (p.Arg15Trp)	CLCN7, LOC130058166 (R15W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896909	NM_001287.6(CLCN7):c.42C>T (p.Asp14=)	CLCN7, LOC130058166	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3337916	NM_001287.6(CLCN7):c.40G>C (p.Asp14His)	CLCN7, LOC130058166 (D14H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1967358	NM_001287.6(CLCN7):c.40G>A (p.Asp14Asn)	CLCN7, LOC130058166 (D14N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1434564	NM_001287.6(CLCN7):c.37C>T (p.Arg13Trp)	CLCN7, LOC130058166 (R13W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2768365	NM_001287.6(CLCN7):c.28T>G (p.Trp10Gly)	CLCN7, LOC130058166 (W10G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2806333	NM_001287.6(CLCN7):c.27C>T (p.Ser9=)	CLCN7, LOC130058166	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2095460	NM_001287.6(CLCN7):c.17A>T (p.Lys6Met)	CLCN7, LOC130058166 (K6M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1365720	NM_001287.6(CLCN7):c.14C>T (p.Ser5Phe)	CLCN7, LOC130058166 (S5F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981067	NM_001287.6(CLCN7):c.1A>G (p.Met1Val)	CLCN7, LOC130058166 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Items: 72