"APAF1-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3042081	NM_181861.2(APAF1):c.527-10C>T	APAF1	Single nucleotide variant (intron variant)	APAF1-related condition	GLikely benign
Select item 3052213	NM_181861.2(APAF1):c.912A>G (p.Ala304=)	APAF1	Single nucleotide variant (synonymous variant)	APAF1-related condition	GLikely benign
Select item 3056405	NM_181861.2(APAF1):c.956-4A>T	APAF1	Single nucleotide variant (intron variant)	APAF1-related condition	GLikely benign
Select item 773029	NM_181861.2(APAF1):c.1077T>C (p.Tyr359=)	APAF1	Single nucleotide variant (synonymous variant +1 more)	APAF1-related condition +1 more	GBenign
Select item 3042926	NM_181861.2(APAF1):c.1248G>A (p.Gln416=)	APAF1	Single nucleotide variant (synonymous variant +1 more)	APAF1-related condition	GLikely benign
Select item 786933	NM_181861.2(APAF1):c.1336A>T (p.Thr446Ser)	APAF1 (T446S +1 more)	Single nucleotide variant (missense variant +1 more)	APAF1-related condition +1 more	GBenign
Select item 712181	NM_181861.2(APAF1):c.1874A>C (p.Glu625Ala)	APAF1 (E614A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3038092	NM_181861.2(APAF1):c.2022C>A (p.Thr674=)	APAF1	Single nucleotide variant (synonymous variant +1 more)	APAF1-related condition	GLikely benign
Select item 776738	NM_181861.2(APAF1):c.2047-3T>C	APAF1	Single nucleotide variant (intron variant)	APAF1-related condition +1 more	GBenign
Select item 3024831	NM_181861.2(APAF1):c.2329G>A (p.Glu777Lys)	APAF1 (E766K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3034869	NM_181861.2(APAF1):c.2421T>G (p.Ser807=)	APAF1	Single nucleotide variant (synonymous variant +1 more)	APAF1-related condition	GBenign
Select item 3039826	NM_181861.2(APAF1):c.2463C>A (p.Ile821=)	APAF1	Single nucleotide variant (synonymous variant +1 more)	APAF1-related condition	GLikely benign
Select item 732993	NM_181861.2(APAF1):c.2612C>T (p.Ser871Leu)	APAF1 (S860L +3 more)	Single nucleotide variant (missense variant +1 more)	APAF1-related condition +1 more	GLikely benign
Select item 3042337	NM_181861.2(APAF1):c.2748G>A (p.Lys916=)	APAF1	Single nucleotide variant (synonymous variant +1 more)	APAF1-related condition	GLikely benign
Select item 3034694	NM_181861.2(APAF1):c.2952C>T (p.Ala984=)	APAF1	Single nucleotide variant (synonymous variant +1 more)	APAF1-related condition	GBenign
Select item 709456	NM_181861.2(APAF1):c.3074C>A (p.Ala1025Asp)	APAF1 (A982D +3 more)	Single nucleotide variant (missense variant +1 more)	APAF1-related condition +1 more	GBenign/Likely benign
Select item 3060045	NM_181861.2(APAF1):c.3112A>G (p.Ile1038Val)	APAF1 (I1027V +3 more)	Single nucleotide variant (missense variant +1 more)	APAF1-related condition	GBenign
Select item 3042238	NM_181861.2(APAF1):c.3205-5_3205-4del	APAF1	Deletion (intron variant)	APAF1-related condition	GBenign
Select item 719386	NM_181861.2(APAF1):c.3347T>C (p.Leu1116Pro)	APAF1 (L1062P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 3041818	NM_181861.2(APAF1):c.3457-7T>C	APAF1	Single nucleotide variant (intron variant)	APAF1-related condition	GLikely benign
Select item 3042071	NM_181861.2(APAF1):c.*3T>C	APAF1	Single nucleotide variant (3 prime UTR variant)	APAF1-related condition	GBenign

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Items: 21