"OMIM"[submitter] AND "KASH5"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2626774	NM_144688.5(KASH5):c.-95-2_798+248del	KASH5	Deletion (splice acceptor variant +2 more)	Spermatogenic failure 88	GPathogenic
Select item 2626772	NM_144688.5(KASH5):c.590T>C (p.Leu197Pro)	KASH5 (L197P)	Single nucleotide variant (missense variant)	Spermatogenic failure 88 +1 more	GPathogenic
Select item 1232307	NM_144688.5(KASH5):c.747G>A (p.Ala249=)	KASH5	Single nucleotide variant (synonymous variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 2626773	NM_144688.5(KASH5):c.981_982del (p.Arg327fs)	KASH5 (R327fs)	Microsatellite (frameshift variant)	Spermatogenic failure 88	GPathogenic
Select item 2626776	NM_144688.5(KASH5):c.1271_1274del (p.Arg424fs)	KASH5 (R424fs)	Deletion (frameshift variant)	Premature ovarian failure 22 +1 more	GPathogenic
Select item 2626771	NM_144688.5(KASH5):c.1604T>A (p.Leu535Gln)	KASH5	Single nucleotide variant (missense variant)	Spermatogenic failure 88	GPathogenic

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