Related gene-specific medical variations for Gene (Select 50626) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3334575	NM_001330618.2(ZFTRAF1):c.411C>G (p.Ile137Met)	TMEM276-ZFTRAF1, ZFTRAF1 (I44M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537082	NM_001330618.2(ZFTRAF1):c.407T>C (p.Phe136Ser)	TMEM276-ZFTRAF1, ZFTRAF1 (F6S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468782	NM_001330618.2(ZFTRAF1):c.754C>T (p.His252Tyr)	TMEM276-ZFTRAF1, ZFTRAF1 (H159Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466815	NM_001330618.2(ZFTRAF1):c.556C>T (p.Arg186Cys)	TMEM276-ZFTRAF1, ZFTRAF1 (R186C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2446709	NM_001330618.2(ZFTRAF1):c.1162_1163del (p.Leu388fs)	ZFTRAF1, TMEM276-ZFTRAF1 (L258fs +3 more)	Deletion (frameshift variant)	Neurodevelopmental disorder with hypotonia and gross motor and speech delay	GLikely pathogenic
Select item 2446444	NM_001330618.2(ZFTRAF1):c.1085_1086del (p.Phe362fs)	ZFTRAF1, TMEM276-ZFTRAF1 (F232fs +3 more)	Deletion (frameshift variant)	Neurodevelopmental disorder with hypotonia and gross motor and speech delay	GPathogenic
Select item 2446443	NM_001330618.2(ZFTRAF1):c.612-2A>C	ZFTRAF1, TMEM276-ZFTRAF1	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder with hypotonia and gross motor and speech delay	GPathogenic

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