ClinVar for MedGen (Select 370197) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1174526	NC_000015.9:g.(43851199_43890333)_(43940820_44038794)del	CKMT1A, CKMT1B +4 more	Deletion	Deafness-infertility syndrome +1 more	GPathogenic/Likely pathogenic
Select item 805531	NM_153700.2(STRC):c.4917A>C (p.Leu1639=)	STRC	Single nucleotide variant (synonymous variant)	Deafness-infertility syndrome +3 more	GBenign/Likely benign
Select item 667392	NC_000015.10:g.(?_43638998)_(43639062_?)del	CATSPER2, LOC130056949	Deletion	Rare genetic deafness +1 more	GPathogenic
Select item 598749	Single allele	CKMT1B, STRC +1 more	Deletion	Deafness-infertility syndrome	GPathogenic
Select item 505435	NM_153700.2(STRC):c.4219-1G>A	STRC	Single nucleotide variant (splice acceptor variant)	STRC-related condition +5 more	GPathogenic/Likely pathogenic
Select item 212742	NM_153700.2(STRC):c.4351C>T (p.Arg1451Ter)	STRC (R1451*)	Single nucleotide variant (nonsense)	Deafness-infertility syndrome +1 more	GPathogenic/Likely pathogenic
Select item 165318	NM_153700.2(STRC):c.3275G>A (p.Cys1092Tyr)	STRC (C1092Y)	Single nucleotide variant (missense variant)	STRC-related condition +5 more	GUncertain significance
Select item 165315	NM_153700.2(STRC):c.3670C>T (p.Arg1224Ter)	STRC (R1224*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 41402	del(15)(q15.1-q15.3)		Deletion	Deafness-infertility syndrome	GPathogenic

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