ClinVar for MedGen (Select 370598) - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234962	NM_001287.6(CLCN7):c.629A>G (p.Lys210Arg)	CLCN7 (K186R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 4	GUncertain significance
Select item 3233378	NM_001287.6(CLCN7):c.1806C>G (p.Tyr602Ter)	CLCN7 (Y578* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive osteopetrosis 4	GLikely pathogenic
Select item 3065777	NM_001287.6(CLCN7):c.1669+1G>C	CLCN7	Single nucleotide variant (splice donor variant)	Autosomal recessive osteopetrosis 4	GLikely pathogenic
Select item 3064765	NM_001287.6(CLCN7):c.1394C>A (p.Ala465Asp)	CLCN7 (A441D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 4	GLikely pathogenic
Select item 2664512	NM_001287.6(CLCN7):c.892dup (p.Ser298fs)	CLCN7 (S274fs +1 more)	Duplication (frameshift variant)	Autosomal recessive osteopetrosis 4	GPathogenic
Select item 2664511	NM_001287.6(CLCN7):c.1304C>T (p.Ser435Leu)	CLCN7 (S411L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 4	GLikely pathogenic
Select item 2663936	NM_001287.6(CLCN7):c.1637A>G (p.Lys546Arg)	CLCN7 (K522R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 4	GUncertain significance
Select item 2446399	NM_001287.6(CLCN7):c.1714del (p.Glu572fs)	CLCN7 (E548fs +1 more)	Deletion (frameshift variant)	Autosomal recessive osteopetrosis 4	GLikely pathogenic
Select item 2431830	NM_001287.6(CLCN7):c.608G>A (p.Gly203Asp)	CLCN7 (G179D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 4	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 1710504	NM_001287.6(CLCN7):c.436_438del (p.Ile146del)	CLCN7 (I122del +1 more)	Deletion (inframe_deletion)	Hypopigmentation, organomegaly, and delayed myelination and development +1 more	GUncertain significance
Select item 1687236	NM_001287.6(CLCN7):c.1208G>A (p.Arg403Gln)	CLCN7 (R379Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 4	GUncertain significance
Select item 1684674	NM_001287.6(CLCN7):c.1681C>T (p.Arg561Trp)	CLCN7 (R537W +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 4	GLikely pathogenic
Select item 1684672	NM_001287.6(CLCN7):c.1125C>G (p.Ile375Met)	CLCN7 (I351M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 4	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 1339039	NM_001287.6(CLCN7):c.913G>A (p.Val305Met)	CLCN7 (V281M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 4	GUncertain significance
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 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 1172576	NM_001287.6(CLCN7):c.1638del (p.Lys546fs)	CLCN7 (K522fs +1 more)	Deletion (frameshift variant)	Autosomal recessive osteopetrosis 4	GLikely pathogenic
Select item 1172575	NM_001287.6(CLCN7):c.2332G>T (p.Val778Phe)	CLCN7 (V754F +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 4	GLikely pathogenic
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 1065115	NM_001287.6(CLCN7):c.1561G>A (p.Gly521Arg)	CLCN7 (G497R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 4	GPathogenic
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 827681	NM_001287.6(CLCN7):c.1617+119G>A	CLCN7	Single nucleotide variant (intron variant)	Autosomal recessive osteopetrosis 4 +1 more	GPathogenic
Select item 807386	NM_001287.6(CLCN7):c.839G>A (p.Arg280His)	CLCN7 (R256H +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 4 +1 more	GConflicting classifications of pathogenicity
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 585308	NM_001287.6(CLCN7):c.2250+1G>T	CLCN7	Single nucleotide variant (splice donor variant)	Autosomal recessive osteopetrosis 4	GPathogenic
Select item 545690	NM_001287.6(CLCN7):c.1165G>A (p.Gly389Arg)	CLCN7 (G389R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 4	GUncertain significance
Select item 545513	NM_001287.6(CLCN7):c.641A>G (p.Asn214Ser)	CLCN7 (N214S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 4	GUncertain significance
Select item 488379	NM_001287.6(CLCN7):c.1682G>A (p.Arg561Gln)	CLCN7 (R537Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 4	GLikely pathogenic
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 65634	NM_001287.6(CLCN7):c.1252G>A (p.Val418Met)	CLCN7 (V418M +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
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 6865	NM_001287.6(CLCN7):c.781A>T (p.Ile261Phe)	CLCN7 (I261F +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 4	GPathogenic
Select item 6863	NM_001287.6(CLCN7):c.2299C>T (p.Arg767Trp)	CLCN7 (R767W +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 6862	NM_001287.6(CLCN7):c.2297T>C (p.Leu766Pro)	CLCN7 (L766P +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 4	GPathogenic
Select item 6861	NM_001287.6(CLCN7):c.2285G>A (p.Arg762Gln)	CLCN7 (R762Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 4	GPathogenic
Select item 6860	NM_001287.6(CLCN7):c.1663C>T (p.Gln555Ter)	CLCN7 (Q555* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive osteopetrosis 4	GPathogenic

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Items: 51