ClinVar for MedGen (Select 465707) - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627406	NM_001287.6(CLCN7):c.1751T>C (p.Met584Thr)	CLCN7 (M560T +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant osteopetrosis 2	GUncertain significance
Select item 1802224	NM_001287.6(CLCN7):c.1448-2A>G	CLCN7	Single nucleotide variant (splice acceptor variant)	Autosomal recessive osteopetrosis 4 +1 more	GLikely pathogenic
Select item 1685638	NM_001287.6(CLCN7):c.1562G>C (p.Gly521Ala)	CLCN7 (G497A +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant osteopetrosis 2	GPathogenic
Select item 1685637	NM_001287.6(CLCN7):c.2066del (p.Lys689fs)	CLCN7 (K665fs +1 more)	Deletion (frameshift variant)	Autosomal dominant osteopetrosis 2	GPathogenic
Select item 1684675	NM_001287.6(CLCN7):c.2274C>G (p.Phe758Leu)	CLCN7 (F734L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1526273	NM_001287.6(CLCN7):c.994A>G (p.Met332Val)	CLCN7 (M308V +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant osteopetrosis 2	GLikely pathogenic
Select item 1475213	NM_001287.6(CLCN7):c.871G>A (p.Ala291Thr)	CLCN7 (A267T +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant osteopetrosis 2 +4 more	GUncertain significance
Select item 1465926	NM_001287.6(CLCN7):c.1797+4C>T	CLCN7	Single nucleotide variant (intron variant)	not provided +3 more	GUncertain significance
Select item 1400616	NM_001287.6(CLCN7):c.812G>A (p.Arg271Gln)	CLCN7 (R271Q +1 more)	Single nucleotide variant (missense variant)	Hypopigmentation, organomegaly, and delayed myelination and development +3 more	GConflicting classifications of pathogenicity
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 1334479	NM_001287.6(CLCN7):c.1077C>A (p.Asn359Lys)	CLCN7 (N335K +1 more)	Single nucleotide variant (missense variant)	Hypopigmentation, organomegaly, and delayed myelination and development +2 more	GLikely pathogenic
Select item 1220179	NM_001287.6(CLCN7):c.1531G>C (p.Ala511Pro)	CLCN7 (A487P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1185533	NM_001287.6(CLCN7):c.1448-43dup	CLCN7	Duplication (intron variant)	not provided +3 more	GBenign
Select item 1185532	NM_001287.6(CLCN7):c.2251-50G>A	CLCN7	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1185332	NM_001287.6(CLCN7):c.285+52C>A	CLCN7	Single nucleotide variant (intron variant)	Autosomal recessive osteopetrosis 4 +3 more	GBenign
Select item 1185331	NM_001287.6(CLCN7):c.676-86C>G	CLCN7	Single nucleotide variant (intron variant)	Hypopigmentation, organomegaly, and delayed myelination and development +3 more	GBenign
Select item 1185330	NM_001287.6(CLCN7):c.676-85G>A	CLCN7	Single nucleotide variant (intron variant)	Hypopigmentation, organomegaly, and delayed myelination and development +3 more	GBenign
Select item 1185329	NM_001287.6(CLCN7):c.981+133G>A	CLCN7	Single nucleotide variant (intron variant)	Hypopigmentation, organomegaly, and delayed myelination and development +3 more	GBenign
Select item 1183287	NM_001287.6(CLCN7):c.1618-49G>A	CLCN7	Single nucleotide variant (intron variant)	Hypopigmentation, organomegaly, and delayed myelination and development +3 more	GBenign
Select item 1182661	NM_001287.6(CLCN7):c.1884-35T>C	CLCN7	Single nucleotide variant (intron variant)	Autosomal dominant osteopetrosis 2 +3 more	GBenign
Select item 1174284	NM_001287.6(CLCN7):c.485-39A>C	CLCN7	Single nucleotide variant (intron variant)	Autosomal recessive osteopetrosis 4 +3 more	GBenign
Select item 1164119	NM_001287.6(CLCN7):c.141+19C>G	CLCN7, LOC130058166	Single nucleotide variant (intron variant)	Autosomal recessive osteopetrosis 4 +3 more	GBenign/Likely benign
Select item 1068483	NM_001287.6(CLCN7):c.856C>T (p.Arg286Trp)	CLCN7 (R262W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1029299	NM_001287.6(CLCN7):c.739-18G>A	CLCN7	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1012215	NM_001287.6(CLCN7):c.952T>C (p.Phe318Leu)	CLCN7 (F294L +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant osteopetrosis 2	GPathogenic
Select item 867226	NM_001287.6(CLCN7):c.1841T>G (p.Leu614Arg)	CLCN7 (L614R +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant osteopetrosis 2	GLikely pathogenic
Select item 626086	NM_001287.6(CLCN7):c.2073+4C>T	CLCN7	Single nucleotide variant (intron variant)	Hypopigmentation, organomegaly, and delayed myelination and development +3 more	GUncertain significance
Select item 438670	NM_001287.6(CLCN7):c.857G>A (p.Arg286Gln)	CLCN7 (R286Q +1 more)	Single nucleotide variant (missense variant)	CLCN7-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 257949	NM_001287.6(CLCN7):c.1170A>T (p.Ala390=)	CLCN7	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 193203	NM_001287.6(CLCN7):c.126T>C (p.Pro42=)	CLCN7, LOC130058166	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 65635	NM_001287.6(CLCN7):c.643G>A (p.Gly215Arg)	CLCN7 (G215R +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant osteopetrosis 2 +2 more	GPathogenic
Select item 56890	NM_001287.6(CLCN7):c.296A>G (p.Tyr99Cys)	CLCN7 (Y99C +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 6863	NM_001287.6(CLCN7):c.2299C>T (p.Arg767Trp)	CLCN7 (R767W +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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Items: 33