ClinVar for MedGen (Select 465707) - ClinVar

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Items: 32

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 18022241.	NM_001287.6(CLCN7):c.1448-2A>G GRCh37: Chr16:1500669 GRCh38: Chr16:1450668	CLCN7		Autosomal recessive osteopetrosis 4, Autosomal dominant osteopetrosis 2	Likely pathogenic (Jun 14, 2022)	criteria provided, single submitter
Select item 16856382.	NM_001287.6(CLCN7):c.1562G>C (p.Gly521Ala) GRCh37: Chr16:1500553 GRCh38: Chr16:1450552	CLCN7	G497A, G521A	Autosomal dominant osteopetrosis 2	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 16856373.	NM_001287.6(CLCN7):c.2066del (p.Lys689fs) GRCh37: Chr16:1497663 GRCh38: Chr16:1447662	CLCN7	K665fs, K689fs	Autosomal dominant osteopetrosis 2	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 16846754.	NM_001287.6(CLCN7):c.2274C>G (p.Phe758Leu) GRCh37: Chr16:1497064 GRCh38: Chr16:1447063	CLCN7	F734L, F758L	Autosomal dominant osteopetrosis 2, not provided	Conflicting interpretations of pathogenicity (Aug 28, 2022)	criteria provided, conflicting interpretations
Select item 15262735.	NM_001287.6(CLCN7):c.994A>G (p.Met332Val) GRCh37: Chr16:1505239 GRCh38: Chr16:1455238	CLCN7	M308V, M332V	Autosomal dominant osteopetrosis 2	Likely pathogenic (Mar 25, 2022)	criteria provided, single submitter
Select item 14752136.	NM_001287.6(CLCN7):c.871G>A (p.Ala291Thr) GRCh37: Chr16:1506159 GRCh38: Chr16:1456158	CLCN7	A267T, A291T	not provided, Autosomal dominant osteopetrosis 2, Autosomal recessive osteopetrosis 4, Hypopigmentation, organomegaly, and delayed myelination and development	Uncertain significance (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14659267.	NM_001287.6(CLCN7):c.1797+4C>T GRCh37: Chr16:1498963 GRCh38: Chr16:1448962	CLCN7		Hypopigmentation, organomegaly, and delayed myelination and development, Autosomal dominant osteopetrosis 2, Autosomal recessive osteopetrosis 4, not provided	Uncertain significance (Sep 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14006168.	NM_001287.6(CLCN7):c.812G>A (p.Arg271Gln) GRCh37: Chr16:1507265 GRCh38: Chr16:1457264	CLCN7	R271Q, R247Q	not provided, Hypopigmentation, organomegaly, and delayed myelination and development, Autosomal recessive osteopetrosis 4, Autosomal dominant osteopetrosis 2	Conflicting interpretations of pathogenicity (Aug 31, 2022)	criteria provided, conflicting interpretations
Select item 13710489.	NM_001287.6(CLCN7):c.2385_2386del (p.Gly796fs) GRCh37: Chr16:1496664-1496665 GRCh38: Chr16:1446663-1446664	CLCN7	G772fs, G796fs	not provided, Autosomal recessive osteopetrosis 4	Conflicting interpretations of pathogenicity (Oct 3, 2022)	criteria provided, conflicting interpretations
Select item 133447910.	NM_001287.6(CLCN7):c.1077C>A (p.Asn359Lys) GRCh37: Chr16:1505156 GRCh38: Chr16:1455155	CLCN7	N335K, N359K	Autosomal dominant osteopetrosis 2, Autosomal recessive osteopetrosis 4, Hypopigmentation, organomegaly, and delayed myelination and development	Likely pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 122017911.	NM_001287.6(CLCN7):c.1531G>C (p.Ala511Pro) GRCh37: Chr16:1500584 GRCh38: Chr16:1450583	CLCN7	A487P, A511P	not provided, Autosomal dominant osteopetrosis 2	Uncertain significance (Aug 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 118553312.	NM_001287.6(CLCN7):c.1448-43dup GRCh37: Chr16:1500708-1500709 GRCh38: Chr16:1450707-1450708	CLCN7		not provided, Hypopigmentation, organomegaly, and delayed myelination and development, Autosomal recessive osteopetrosis 4, Autosomal dominant osteopetrosis 2	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118553213.	NM_001287.6(CLCN7):c.2251-50G>A GRCh37: Chr16:1497137 GRCh38: Chr16:1447136	CLCN7		not provided, Hypopigmentation, organomegaly, and delayed myelination and development, Autosomal recessive osteopetrosis 4, Autosomal dominant osteopetrosis 2	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118533214.	NM_001287.6(CLCN7):c.285+52C>A GRCh37: Chr16:1511552 GRCh38: Chr16:1461551	CLCN7		Hypopigmentation, organomegaly, and delayed myelination and development, not provided, Autosomal recessive osteopetrosis 4, Autosomal dominant osteopetrosis 2	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118533115.	NM_001287.6(CLCN7):c.676-86C>G GRCh37: Chr16:1507843 GRCh38: Chr16:1457842	CLCN7		Hypopigmentation, organomegaly, and delayed myelination and development, not provided, Autosomal recessive osteopetrosis 4, Autosomal dominant osteopetrosis 2	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118533016.	NM_001287.6(CLCN7):c.676-85G>A GRCh37: Chr16:1507842 GRCh38: Chr16:1457841	CLCN7		Hypopigmentation, organomegaly, and delayed myelination and development, not provided, Autosomal dominant osteopetrosis 2, Autosomal recessive osteopetrosis 4	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118532917.	NM_001287.6(CLCN7):c.981+133G>A GRCh37: Chr16:1505599 GRCh38: Chr16:1455598	CLCN7		Hypopigmentation, organomegaly, and delayed myelination and development, not provided, Autosomal dominant osteopetrosis 2, Autosomal recessive osteopetrosis 4	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118328718.	NM_001287.6(CLCN7):c.1618-49G>A GRCh37: Chr16:1499377 GRCh38: Chr16:1449376	CLCN7		Hypopigmentation, organomegaly, and delayed myelination and development, not provided, Autosomal dominant osteopetrosis 2, Autosomal recessive osteopetrosis 4	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118266119.	NM_001287.6(CLCN7):c.1884-35T>C GRCh37: Chr16:1498520 GRCh38: Chr16:1448519	CLCN7		Hypopigmentation, organomegaly, and delayed myelination and development, Autosomal dominant osteopetrosis 2, not provided, Autosomal recessive osteopetrosis 4	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 117428420.	NM_001287.6(CLCN7):c.485-39A>C GRCh37: Chr16:1510567 GRCh38: Chr16:1460566	CLCN7		not provided, Autosomal recessive osteopetrosis 4, Autosomal dominant osteopetrosis 2, Hypopigmentation, organomegaly, and delayed myelination and development	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 116411921.	NM_001287.6(CLCN7):c.141+19C>G GRCh37: Chr16:1524816 GRCh38: Chr16:1474815	CLCN7		Autosomal dominant osteopetrosis 2, Autosomal recessive osteopetrosis 4, Hypopigmentation, organomegaly, and delayed myelination and development, not provided	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106848322.	NM_001287.6(CLCN7):c.856C>T (p.Arg286Trp) GRCh37: Chr16:1506174 GRCh38: Chr16:1456173	CLCN7	R262W, R286W	Autosomal dominant osteopetrosis 2, not provided, Increased bone mineral density	Pathogenic/Likely pathogenic (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102929923.	NM_001287.6(CLCN7):c.739-18G>A GRCh37: Chr16:1507356 GRCh38: Chr16:1457355	CLCN7		not provided, Autosomal dominant osteopetrosis 2	Pathogenic (Jul 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101221524.	NM_001287.6(CLCN7):c.952T>C (p.Phe318Leu) GRCh37: Chr16:1505761 GRCh38: Chr16:1455760	CLCN7	F294L, F318L	Autosomal dominant osteopetrosis 2	Pathogenic (Sep 4, 2019)	criteria provided, single submitter
Select item 86722625.	NM_001287.6(CLCN7):c.1841T>G (p.Leu614Arg) GRCh37: Chr16:1498724 GRCh38: Chr16:1448723	CLCN7	L614R, L590R	Autosomal dominant osteopetrosis 2	Likely pathogenic (Mar 17, 2020)	criteria provided, single submitter
Select item 62608626.	NM_001287.6(CLCN7):c.2073+4C>T GRCh37: Chr16:1497652 GRCh38: Chr16:1447651	CLCN7		Autosomal dominant osteopetrosis 2, Autosomal recessive osteopetrosis 4, not provided, Autosomal dominant osteopetrosis 2, Autosomal recessive osteopetrosis 4, Hypopigmentation, organomegaly, and delayed myelination and development	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43867027.	NM_001287.6(CLCN7):c.857G>A (p.Arg286Gln) GRCh37: Chr16:1506173 GRCh38: Chr16:1456172	CLCN7	R286Q, R262Q	Inborn genetic diseases, Abnormality of the skeletal system, Increased bone mineral density, not provided	Conflicting interpretations of pathogenicity (Feb 1, 2023)	criteria provided, conflicting interpretations
Select item 25794928.	NM_001287.6(CLCN7):c.1170A>T (p.Ala390=) GRCh37: Chr16:1503879 GRCh38: Chr16:1453878	CLCN7		not specified, not provided, Autosomal dominant osteopetrosis 2, Hypopigmentation, organomegaly, and delayed myelination and development, Osteopetrosis, Autosomal recessive osteopetrosis 4	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19320329.	NM_001287.6(CLCN7):c.126T>C (p.Pro42=) GRCh37: Chr16:1524850 GRCh38: Chr16:1474849	CLCN7		Hypopigmentation, organomegaly, and delayed myelination and development, not specified, not provided, Autosomal recessive osteopetrosis 4, Autosomal dominant osteopetrosis 2, Osteopetrosis	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6563530.	NM_001287.6(CLCN7):c.643G>A (p.Gly215Arg) GRCh37: Chr16:1509140 GRCh38: Chr16:1459139	CLCN7	G215R, G191R	not provided, Autosomal dominant osteopetrosis 2	Pathogenic (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5689031.	NM_001287.6(CLCN7):c.296A>G (p.Tyr99Cys) GRCh37: Chr16:1511461 GRCh38: Chr16:1461460	CLCN7	Y99C, Y75C	not provided	Pathogenic/Likely pathogenic (Sep 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 686332.	NM_001287.6(CLCN7):c.2299C>T (p.Arg767Trp) GRCh37: Chr16:1497039 GRCh38: Chr16:1447038	CLCN7	R767W, R743W	not provided	Pathogenic (Oct 31, 2022)	criteria provided, single submitter

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Items: 32