ClinVar for MedGen (Select 766708) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1727243	NM_001031748.4(REDIC1):c.233_234insTT (p.Met78fs)	REDIC1 (M78fs)	Insertion (frameshift variant +1 more)	Spermatogenic Failure	GPathogenic
Select item 979152	NM_176822.4(NLRP14):c.257A>T (p.Asp86Val)	NLRP14 (D86V)	Single nucleotide variant (missense variant)	Spermatogenic Failure	GBenign
Select item 560884	NM_001101677.2(SOHLH1):c.346-1G>A	SOHLH1	Single nucleotide variant (splice acceptor variant)	not provided	GBenign
Select item 344233	NM_031955.5(SPATA16):c.-159C>A	SPATA16	Single nucleotide variant	Spermatogenic Failure	GUncertain significance
Select item 344231	NM_031955.6(SPATA16):c.-141C>T	SPATA16	Single nucleotide variant (5 prime UTR variant)	Spermatogenic Failure	GUncertain significance
Select item 344213	NM_031955.6(SPATA16):c.848+15del	SPATA16	Deletion (intron variant)	Spermatogenic Failure	GUncertain significance
Select item 330227	NM_001015878.2(AURKC):c.-80dup	AURKC	Duplication (5 prime UTR variant +1 more)	Spermatogenic Failure	GLikely benign
Select item 330226	NM_001015878.2(AURKC):c.-99dup	AURKC	Duplication (5 prime UTR variant +1 more)	Spermatogenic Failure +1 more	GConflicting classifications of pathogenicity
Select item 306763	NM_001177949.2(SYCP3):c.454-13_454-9del	SYCP3	Deletion (intron variant)	not provided +1 more	GBenign
Select item 306758	NM_020244.3(CHPT1):c.1177-215_1177-212del	CHPT1, SYCP3	Microsatellite (3 prime UTR variant +1 more)	Spermatogenic Failure	GLikely benign
Select item 235386	NM_176822.4(NLRP14):c.322A>T (p.Lys108Ter)	NLRP14 (K108*)	Single nucleotide variant (nonsense)	NLRP14-related disorder +3 more	GBenign