576[HGNC] - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 148826	GRCh38/hg38 12q23.1-23.2(chr12:97394550-101410225)x3	ACTR6, ANKS1B +91 more	Copy number gain	See cases	GLikely pathogenic
Select item 2386924	NM_181861.2(APAF1):c.37A>G (p.Arg13Gly)	APAF1 (R13G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301433	NM_181861.2(APAF1):c.92G>C (p.Ser31Thr)	APAF1 (S31T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 518463	NM_181861.2(APAF1):c.104dup (p.Leu35fs)	APAF1 (L35fs)	Duplication (frameshift variant)	Neural tube defect	GUncertain significance
Select item 2341867	NM_181861.2(APAF1):c.179T>C (p.Ile60Thr)	APAF1 (I60T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387158	NM_181861.2(APAF1):c.205G>A (p.Val69Ile)	APAF1 (V69I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2411405	NM_181861.2(APAF1):c.271A>C (p.Ile91Leu)	APAF1 (I91L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127608	NM_181861.2(APAF1):c.274C>T (p.Pro92Ser)	APAF1 (P92S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127610	NM_181861.2(APAF1):c.287C>T (p.Ser96Phe)	APAF1 (S96F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310576	NM_181861.2(APAF1):c.293G>A (p.Ser98Asn)	APAF1 (S98N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3127616	NM_181861.2(APAF1):c.434G>T (p.Gly145Val)	APAF1, LOC126861609 (G134V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301444	NM_181861.2(APAF1):c.439C>A (p.Pro147Thr)	APAF1, LOC126861609 (P136T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042081	NM_181861.2(APAF1):c.527-10C>T	APAF1	Single nucleotide variant (intron variant)	APAF1-related disorder	GLikely benign
Select item 3127617	NM_181861.2(APAF1):c.676C>T (p.Arg226Cys)	APAF1 (R215C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127618	NM_181861.2(APAF1):c.746G>C (p.Trp249Ser)	APAF1 (W249S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558419	NM_181861.2(APAF1):c.766A>G (p.Ser256Gly)	APAF1 (S256G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208468	NM_181861.2(APAF1):c.772T>A (p.Cys258Ser)	APAF1 (C247S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369582	NM_181861.2(APAF1):c.902T>A (p.Met301Lys)	APAF1 (M301K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052213	NM_181861.2(APAF1):c.912A>G (p.Ala304=)	APAF1	Single nucleotide variant (synonymous variant)	APAF1-related disorder	GLikely benign
Select item 3056405	NM_181861.2(APAF1):c.956-4A>T	APAF1	Single nucleotide variant (intron variant)	APAF1-related disorder	GLikely benign
Select item 3127620	NM_181861.2(APAF1):c.979A>G (p.Ile327Val)	APAF1 (I316V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127602	NM_181861.2(APAF1):c.1009C>T (p.Arg337Cys)	APAF1 (R326C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 773029	NM_181861.2(APAF1):c.1077T>C (p.Tyr359=)	APAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2611921	NM_181861.2(APAF1):c.1108A>G (p.Ile370Val)	APAF1 (I359V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278439	NM_181861.2(APAF1):c.1120A>G (p.Met374Val)	APAF1 (M363V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 761570	NM_181861.2(APAF1):c.1125C>T (p.Leu375=)	APAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3042926	NM_181861.2(APAF1):c.1248G>A (p.Gln416=)	APAF1	Single nucleotide variant (synonymous variant +1 more)	APAF1-related disorder	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)	not provided	GBenign
Select item 2351642	NM_181861.2(APAF1):c.1361A>G (p.Gln454Arg)	APAF1 (Q443R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495647	NM_181861.2(APAF1):c.1391T>C (p.Phe464Ser)	APAF1 (F464S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2643227	NM_181861.2(APAF1):c.1409C>T (p.Pro470Leu)	APAF1 (P459L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3127603	NM_181861.2(APAF1):c.1424C>T (p.Pro475Leu)	APAF1 (P475L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364525	NM_181861.2(APAF1):c.1466A>G (p.Tyr489Cys)	APAF1 (Y478C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127604	NM_181861.2(APAF1):c.1478G>A (p.Ser493Asn)	APAF1 (S482N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234940	NM_181861.2(APAF1):c.1561C>T (p.His521Tyr)	APAF1 (H510Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517932	NM_181861.2(APAF1):c.1712C>T (p.Pro571Leu)	APAF1 (P560L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318873	NM_181861.2(APAF1):c.1751C>A (p.Ala584Asp)	APAF1 (A573D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556916	NM_181861.2(APAF1):c.1844C>G (p.Thr615Arg)	APAF1 (T604R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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	GBenign
Select item 3038092	NM_181861.2(APAF1):c.2022C>A (p.Thr674=)	APAF1	Single nucleotide variant (synonymous variant +1 more)	APAF1-related disorder	GLikely benign
Select item 776738	NM_181861.2(APAF1):c.2047-3T>C	APAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3127605	NM_181861.2(APAF1):c.2240A>G (p.Asn747Ser)	APAF1 (N736S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 520672	NM_181861.2(APAF1):c.2249G>A (p.Arg750Lys)	APAF1 (R750K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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	GBenign
Select item 3024766	NM_181861.2(APAF1):c.2345A>C (p.Asn782Thr)	APAF1 (N771T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 520671	NM_181861.2(APAF1):c.2383G>C (p.Glu795Gln)	APAF1 (E795Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2547917	NM_181861.2(APAF1):c.2407T>G (p.Cys803Gly)	APAF1 (C803G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3034869	NM_181861.2(APAF1):c.2421T>G (p.Ser807=)	APAF1	Single nucleotide variant (synonymous variant +1 more)	APAF1-related disorder	GBenign
Select item 744827	NM_181861.2(APAF1):c.2436G>A (p.Arg812=)	APAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3039826	NM_181861.2(APAF1):c.2463C>A (p.Ile821=)	APAF1	Single nucleotide variant (synonymous variant +1 more)	APAF1-related disorder	GLikely benign
Select item 2268834	NM_181861.2(APAF1):c.2483C>T (p.Thr828Ile)	APAF1 (T817I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127606	NM_181861.2(APAF1):c.2506C>T (p.His836Tyr)	APAF1 (H825Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 732993	NM_181861.2(APAF1):c.2612C>T (p.Ser871Leu)	APAF1 (S860L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3127607	NM_181861.2(APAF1):c.2681G>A (p.Gly894Glu)	APAF1 (G840E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3042337	NM_181861.2(APAF1):c.2748G>A (p.Lys916=)	APAF1	Single nucleotide variant (synonymous variant +1 more)	APAF1-related disorder	GLikely benign
Select item 2371481	NM_181861.2(APAF1):c.2834G>A (p.Arg945His)	APAF1 (R934H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620112	NM_181861.2(APAF1):c.2845A>G (p.Ile949Val)	APAF1 (I906V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307701	NM_181861.2(APAF1):c.2867T>C (p.Ile956Thr)	APAF1 (I956T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272559	NM_181861.2(APAF1):c.2942A>G (p.Glu981Gly)	APAF1 (E938G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3034694	NM_181861.2(APAF1):c.2952C>T (p.Ala984=)	APAF1	Single nucleotide variant (synonymous variant +1 more)	APAF1-related disorder	GBenign
Select item 3127611	NM_181861.2(APAF1):c.2978A>G (p.Asn993Ser)	APAF1 (N993S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301422	NM_181861.2(APAF1):c.3007A>G (p.Lys1003Glu)	APAF1 (K960E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127612	NM_181861.2(APAF1):c.3040G>A (p.Asp1014Asn)	APAF1 (D1014N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127613	NM_181861.2(APAF1):c.3061A>G (p.Ser1021Gly)	APAF1 (S1010G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 709456	NM_181861.2(APAF1):c.3074C>A (p.Ala1025Asp)	APAF1 (A982D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 disorder	GBenign
Select item 3042238	NM_181861.2(APAF1):c.3205-5_3205-4del	APAF1	Deletion (intron variant)	APAF1-related disorder	GBenign
Select item 3127614	NM_181861.2(APAF1):c.3205G>T (p.Val1069Leu)	APAF1 (V1015L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491018	NM_181861.2(APAF1):c.3286G>A (p.Asp1096Asn)	APAF1 (D1085N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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	GLikely benign
Select item 2286735	NM_181861.2(APAF1):c.3395G>T (p.Cys1132Phe)	APAF1 (C1089F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470666	NM_181861.2(APAF1):c.3419C>T (p.Thr1140Ile)	APAF1 (T1086I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127615	NM_181861.2(APAF1):c.3430A>G (p.Thr1144Ala)	APAF1 (T1133A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3041818	NM_181861.2(APAF1):c.3457-7T>C	APAF1	Single nucleotide variant (intron variant)	APAF1-related disorder	GLikely benign
Select item 2263947	NM_181861.2(APAF1):c.3610G>A (p.Val1204Ile)	APAF1 (V1193I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042071	NM_181861.2(APAF1):c.*3T>C	APAF1	Single nucleotide variant (3 prime UTR variant)	APAF1-related disorder	GBenign
Select item 687374	GRCh37/hg19 12q23.1(chr12:98360850-99487172)x3	ANKS1B, APAF1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 686999	GRCh37/hg19 12q23.1(chr12:98968226-99077328)x3	APAF1, IKBIP +1 more	Copy number gain	not provided	GUncertain significance
Select item 563984	GRCh37/hg19 12q23.1(chr12:96719383-101537641)x3	ACTR6, ANKS1B +16 more	Copy number gain	not provided	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 84