2025[HGNC] - 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	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 317902	NM_001287.6(CLCN7):c.*1685G>A	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GLikely benign
Select item 886153	NM_001287.6(CLCN7):c.*1667C>T	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 317903	NM_001287.6(CLCN7):c.*1645G>C	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GBenign
Select item 317904	NM_001287.6(CLCN7):c.*1626G>C	CLCN7	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 317905	NM_001287.6(CLCN7):c.*1619GGT[1]	CLCN7	Microsatellite (3 prime UTR variant)	Osteopetrosis	GLikely benign
Select item 887168	NM_001287.6(CLCN7):c.*1623G>T	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 887169	NM_001287.6(CLCN7):c.*1607G>T	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 317906	NM_001287.6(CLCN7):c.*1589G>C	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GLikely benign
Select item 887170	NM_001287.6(CLCN7):c.*1573G>A	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 887171	NM_001287.6(CLCN7):c.*1572C>T	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GLikely benign
Select item 317907	NM_001287.6(CLCN7):c.*1497dup	CLCN7	Duplication (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 317908	NM_001287.6(CLCN7):c.*1491C>T	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 317909	NM_001287.6(CLCN7):c.*1452G>A	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GLikely benign
Select item 317910	NM_001287.6(CLCN7):c.*1421G>C	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 317911	NM_001287.6(CLCN7):c.*1403A>C	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 317912	NM_001287.6(CLCN7):c.*1389A>C	CLCN7	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 888425	NM_001287.6(CLCN7):c.*1368G>A	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 317913	NM_001287.6(CLCN7):c.*1332C>T	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis +1 more	GBenign
Select item 888426	NM_001287.6(CLCN7):c.*1330C>T	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 317914	NM_001287.6(CLCN7):c.*1297T>C	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 317915	NM_001287.6(CLCN7):c.*1293G>A	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 885322	NM_001287.6(CLCN7):c.*1289G>A	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 317916	NM_001287.6(CLCN7):c.*1248G>A	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 885323	NM_001287.6(CLCN7):c.*1215C>A	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 317917	NM_001287.6(CLCN7):c.*1189G>A	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 885324	NM_001287.6(CLCN7):c.*1180G>C	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 317918	NM_001287.6(CLCN7):c.*1176C>T	CLCN7	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 317919	NM_001287.6(CLCN7):c.*1157C>T	CLCN7	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 317921	NM_001287.6(CLCN7):c.1143_1144dup	CLCN7	Duplication (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 317920	NM_001287.6(CLCN7):c.*1144dup	CLCN7	Duplication (3 prime UTR variant)	Osteopetrosis	GLikely benign
Select item 886226	NM_001287.6(CLCN7):c.*1085G>A	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 886227	NM_001287.6(CLCN7):c.*1026C>A	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 886228	NM_001287.6(CLCN7):c.*1017C>A	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 886229	NM_001287.6(CLCN7):c.*996C>T	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 317922	NM_001287.6(CLCN7):c.*990C>T	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GBenign
Select item 317923	NM_001287.6(CLCN7):c.*887C>T	CLCN7	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 317924	NM_001287.6(CLCN7):c.*886C>T	CLCN7	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 317925	NM_001287.6(CLCN7):c.*797G>T	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 317926	NM_001287.6(CLCN7):c.*735C>T	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis +1 more	GBenign
Select item 317927	NM_001287.6(CLCN7):c.*717C>A	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 887232	NM_001287.6(CLCN7):c.*671T>C	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 887233	NM_001287.6(CLCN7):c.*632C>G	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 317928	NM_001287.6(CLCN7):c.*627A>G	CLCN7	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 317929	NM_001287.6(CLCN7):c.*614G>A	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 317930	NM_001287.6(CLCN7):c.*592G>C	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 317931	NM_001287.6(CLCN7):c.*543C>T	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 888484	NM_001287.6(CLCN7):c.*530G>A	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis +1 more	GBenign
Select item 888485	NM_001287.6(CLCN7):c.*510G>C	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 317932	NM_001287.6(CLCN7):c.*496T>C	CLCN7	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 317933	NM_001287.6(CLCN7):c.*414C>T	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 317934	NM_001287.6(CLCN7):c.*396G>A	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 317935	NM_001287.6(CLCN7):c.*388C>T	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 317936	NM_001287.6(CLCN7):c.*379C>T	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 884259	NM_001287.6(CLCN7):c.*359A>G	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 317937	NM_001287.6(CLCN7):c.*355C>T	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 884260	NM_001287.6(CLCN7):c.*262G>A	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GBenign
Select item 317938	NM_001287.6(CLCN7):c.*241G>A	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 317939	NM_001287.6(CLCN7):c.*228C>T	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 884261	NM_001287.6(CLCN7):c.*216C>T	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 884262	NM_001287.6(CLCN7):c.*135G>A	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 886289	NM_001287.6(CLCN7):c.*132C>T	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 317940	NM_001287.6(CLCN7):c.*130G>A	CLCN7	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 886290	NM_001287.6(CLCN7):c.*89C>T	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GLikely benign
Select item 317941	NM_001287.6(CLCN7):c.*57C>T	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 886291	NM_001287.6(CLCN7):c.*24C>T	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 257947	NM_001287.6(CLCN7):c.*19A>G	CLCN7	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign
Select item 886292	NM_001287.6(CLCN7):c.*9C>T	CLCN7	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis	GUncertain significance
Select item 794074	NM_001287.6(CLCN7):c.2415G>A (p.Thr805=)	CLCN7	Single nucleotide variant (synonymous variant)	Osteopetrosis +1 more	GConflicting classifications of pathogenicity
Select item 1499136	NM_001287.6(CLCN7):c.2414C>T (p.Thr805Met)	CLCN7 (T781M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2984233	NM_001287.6(CLCN7):c.2403G>A (p.Ser801=)	CLCN7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972164	NM_001287.6(CLCN7):c.2402C>G (p.Ser801Trp)	CLCN7 (S801W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 887290	NM_001287.6(CLCN7):c.2402C>T (p.Ser801Leu)	CLCN7 (S801L +1 more)	Single nucleotide variant (missense variant)	Osteopetrosis +2 more	GUncertain significance
Select item 2174089	NM_001287.6(CLCN7):c.2400C>T (p.Leu800=)	CLCN7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1545660	NM_001287.6(CLCN7):c.2391G>A (p.Leu797=)	CLCN7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1371048	NM_001287.6(CLCN7):c.2385_2386del (p.Gly796fs)	CLCN7 (G772fs +1 more)	Microsatellite (frameshift variant)	Autosomal recessive osteopetrosis 4 +1 more	GConflicting classifications of pathogenicity
Select item 1481613	NM_001287.6(CLCN7):c.2381A>T (p.Lys794Met)	CLCN7 (K794M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1370546	NM_001287.6(CLCN7):c.2372G>A (p.Arg791His)	CLCN7 (R791H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1974043	NM_001287.6(CLCN7):c.2371C>T (p.Arg791Cys)	CLCN7 (R791C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 798591	NM_001287.6(CLCN7):c.2370C>T (p.Tyr790=)	CLCN7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2065077	NM_001287.6(CLCN7):c.2368T>C (p.Tyr790His)	CLCN7 (Y766H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440141	NM_001287.6(CLCN7):c.2362G>A (p.Ala788Thr)	CLCN7 (A764T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1538204	NM_001287.6(CLCN7):c.2361C>T (p.Leu787=)	CLCN7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3036284	NM_001287.6(CLCN7):c.2346G>C (p.Val782=)	CLCN7	Single nucleotide variant (synonymous variant)	CLCN7-related disorder	GLikely benign
Select item 1926407	NM_001287.6(CLCN7):c.2338G>A (p.Gly780Arg)	CLCN7 (G756R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 742074	NM_001287.6(CLCN7):c.2337C>T (p.Val779=)	CLCN7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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