"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "ATP6V1B2"[ - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2467002	NM_001693.4(ATP6V1B2):c.7C>A (p.Leu3Met)	ATP6V1B2, LOC129999955 (L3M)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 770944	NM_001693.4(ATP6V1B2):c.11G>A (p.Arg4Gln)	ATP6V1B2, LOC129999955 (R4Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2658457	NM_001693.4(ATP6V1B2):c.18_26del (p.Met6_Gly8del)	ATP6V1B2, LOC129999955	Deletion (inframe_deletion)	not provided	GBenign
Select item 2376833	NM_001693.4(ATP6V1B2):c.37G>A (p.Ala13Thr)	ATP6V1B2 (A13T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 788819	NM_001693.4(ATP6V1B2):c.192+7C>G	ATP6V1B2	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 916493	NM_001693.4(ATP6V1B2):c.564A>C (p.Lys188Asn)	ATP6V1B2 (K188N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026299	NM_001693.4(ATP6V1B2):c.657A>G (p.Val219=)	ATP6V1B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 786555	NM_001693.4(ATP6V1B2):c.732C>T (p.Phe244=)	ATP6V1B2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2499071	NM_001693.4(ATP6V1B2):c.762G>A (p.Met254Ile)	ATP6V1B2 (M254I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 727726	NM_001693.4(ATP6V1B2):c.1041G>A (p.Ser347=)	ATP6V1B2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 783836	NM_001693.4(ATP6V1B2):c.1131C>A (p.Ile377=)	ATP6V1B2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2658458	NM_001693.4(ATP6V1B2):c.1388T>C (p.Ile463Thr)	ATP6V1B2 (I463T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2658459	NM_001693.4(ATP6V1B2):c.1416T>G (p.Thr472=)	ATP6V1B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1711670	NM_001693.4(ATP6V1B2):c.1454G>T (p.Arg485Leu)	ATP6V1B2 (R485L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2658460	NM_001693.4(ATP6V1B2):c.*3del	ATP6V1B2	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 624504	GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3	ADAM28, ADAM7 +123 more	Copy number gain	not provided	GLikely pathogenic