5624[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153085	GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)x1	AMMECR1L, BIN1 +254 more	Copy number loss	See cases	GPathogenic
Select item 60184	GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	ACMSD, AMER3 +391 more	Copy number loss	See cases	GPathogenic
Select item 60185	GRCh38/hg38 2q14.3(chr2:121824798-128870804)x1	AMMECR1L, BIN1 +121 more	Copy number loss	See cases	GPathogenic
Select item 60186	GRCh38/hg38 2q14.3(chr2:122324343-128371704)x1	LOC115945190, LOC120961783 +101 more	Copy number loss	See cases	GPathogenic
Select item 148393	GRCh38/hg38 2q14.3-21.1(chr2:122847356-129545581)x1	AMMECR1L, BIN1 +116 more	Copy number loss	See cases	GLikely pathogenic
Select item 146132	GRCh38/hg38 2q14.3(chr2:123169989-128460075)x1	AMMECR1L, BIN1 +100 more	Copy number loss	See cases	GPathogenic
Select item 147544	GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	ACMSD, AMER3 +336 more	Copy number loss	See cases	GPathogenic
Select item 1180433	NC_000002.12:g.124348648_129410245del	LOC129934710, LOC129934711 +112 more	Deletion	See cases	Gnot provided
Select item 149324	GRCh38/hg38 2q14.3-21.1(chr2:127063206-130527454)x3	AMMECR1L, BIN1 +125 more	Copy number gain	See cases	GUncertain significance
Select item 1164169	NC_000002.12:g.127418286C>T	PROC	Single nucleotide variant (genic upstream transcript variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GBenign
Select item 1164170	NC_000002.12:g.127418299G>A	PROC	Single nucleotide variant (genic upstream transcript variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GBenign
Select item 827669	NM_000312.3(PROC):c.-150_-149delGT	PROC	Deletion	not provided	GUncertain significance
Select item 3051025	NC_000002.12:g.127418399G>A	PROC	Single nucleotide variant	PROC-related disorder	GLikely benign
Select item 2714995	NC_000002.12:g.127418412T>C	PROC	Single nucleotide variant	PROC-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 546153	NM_000312.3(PROC):c.-97_-91delGTTATGG	PROC	Deletion	not provided	GLikely pathogenic
Select item 678	NC_000002.12:g.127418425T>C	PROC	Single nucleotide variant (genic upstream transcript variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GPathogenic
Select item 331099	NM_000312.4(PROC):c.-55C>T	PROC (R5W)	Single nucleotide variant (5 prime UTR variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 894293	NM_000312.4(PROC):c.-54G>A	PROC (R5Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GConflicting classifications of pathogenicity
Select item 3037389	NM_000312.4(PROC):c.-51G>A	PROC (R6Q)	Single nucleotide variant (5 prime UTR variant +1 more)	PROC-related disorder	GLikely benign
Select item 255808	NM_000312.4(PROC):c.-50A>T	PROC	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 331100	NM_000312.4(PROC):c.-33C>T	PROC (T12M)	Single nucleotide variant (5 prime UTR variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant +1 more	GBenign/Likely benign
Select item 3043186	NM_000312.4(PROC):c.-32G>A	PROC	Single nucleotide variant (5 prime UTR variant +1 more)	PROC-related disorder	GLikely benign
Select item 1220858	NM_000312.4(PROC):c.-21-121C>T	PROC	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 331101	NM_000312.4(PROC):c.-21-5C>T	PROC (L32F +1 more)	Single nucleotide variant (missense variant +2 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely benign
Select item 2700349	NM_000312.4(PROC):c.6G>A (p.Trp2Ter)	PROC (W2* +3 more)	Single nucleotide variant (nonsense +2 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GPathogenic
Select item 2766701	NM_000312.4(PROC):c.20T>C (p.Leu7Pro)	PROC (L28P +3 more)	Single nucleotide variant (missense variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 469121	NM_000312.4(PROC):c.30C>T (p.Phe10=)	PROC (S50L)	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1339294	NM_000312.4(PROC):c.31G>A (p.Val11Met)	PROC (V11M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1088403	NM_000312.4(PROC):c.39C>T (p.Thr13=)	PROC (P53L)	Single nucleotide variant (synonymous variant +2 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely benign
Select item 972257	NM_000312.4(PROC):c.41G>A (p.Trp14Ter)	PROC (W75* +3 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 536974	NM_000312.4(PROC):c.51C>T (p.Ser17=)	PROC (P57L)	Single nucleotide variant (synonymous variant +2 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely benign
Select item 161337	NM_000312.4(PROC):c.52G>A (p.Gly18Ser)	PROC (G18S +2 more)	Single nucleotide variant (missense variant +2 more)	Thrombophilia due to protein C deficiency, autosomal recessive +1 more	GUncertain significance
Select item 696145	NM_000312.4(PROC):c.60A>G (p.Pro20=)	PROC (Q60R)	Single nucleotide variant (synonymous variant +2 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely benign
Select item 331102	NM_000312.4(PROC):c.66T>C (p.Pro22=)	PROC (L62P)	Single nucleotide variant (synonymous variant +2 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GBenign/Likely benign
Select item 2910456	NM_000312.4(PROC):c.69T>C (p.Leu23=)	PROC (L63S)	Single nucleotide variant (synonymous variant +2 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 1163799	NM_000312.4(PROC):c.70+7C>G	PROC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2901965	NM_000312.4(PROC):c.70+10C>T	PROC	Single nucleotide variant (intron variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely benign
Select item 1703786	NM_000312.4(PROC):c.70+12C>T	PROC	Single nucleotide variant (intron variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 894294	NM_000312.4(PROC):c.70+13C>G	PROC	Single nucleotide variant (intron variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GConflicting classifications of pathogenicity
Select item 469124	NM_000312.4(PROC):c.71-17C>T	PROC	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2906338	NM_000312.4(PROC):c.71-16C>A	PROC	Single nucleotide variant (intron variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely benign
Select item 2791978	NM_000312.4(PROC):c.71-16C>G	PROC	Single nucleotide variant (intron variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely benign
Select item 627133	NM_000312.4(PROC):c.76G>A (p.Val26Met)	PROC (V26M +3 more)	Single nucleotide variant (missense variant +2 more)	Reduced protein C activity	GLikely pathogenic
Select item 2863255	NM_000312.4(PROC):c.90C>T (p.Ser30=)	PROC	Single nucleotide variant (synonymous variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely benign
Select item 237635	NM_000312.4(PROC):c.91G>A (p.Glu31Lys)	PROC (E31K +4 more)	Single nucleotide variant (missense variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 1992372	NM_000312.4(PROC):c.92A>T (p.Glu31Val)	PROC (E23V +4 more)	Single nucleotide variant (missense variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 1992373	NM_000312.4(PROC):c.94C>T (p.Arg32Cys)	PROC (R24C +4 more)	Single nucleotide variant (missense variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GPathogenic
Select item 1298823	NM_000312.4(PROC):c.112C>T (p.Arg38Trp)	PROC (R30W +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 800485	NM_000312.4(PROC):c.113G>A (p.Arg38Gln)	PROC (R30Q +5 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal recessive +1 more	GUncertain significance
Select item 1043032	NM_000312.4(PROC):c.118C>T (p.Arg40Cys)	PROC (R40C +5 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant +1 more	GUncertain significance
Select item 932369	NM_000312.4(PROC):c.124C>T (p.Arg42Cys)	PROC (R63C +5 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant +2 more	GPathogenic/Likely pathogenic
Select item 161333	NM_000312.4(PROC):c.125G>A (p.Arg42His)	PROC (R42H +5 more)	Single nucleotide variant (missense variant)	Deep venous thrombosis +2 more	GLikely pathogenic
Select item 1330289	NM_000312.4(PROC):c.127G>A (p.Ala43Thr)	PROC (A104T +5 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 1092779	NM_000312.4(PROC):c.132C>T (p.Asn44=)	PROC	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely benign
Select item 1146548	NM_000312.4(PROC):c.139C>T (p.Leu47=)	PROC	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely benign
Select item 2169394	NM_000312.4(PROC):c.144G>A (p.Glu48=)	PROC	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely benign
Select item 1676815	NM_000312.4(PROC):c.151C>T (p.Arg51Cys)	PROC (R112C +5 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 566689	NM_000312.4(PROC):c.156C>G (p.His52Gln)	PROC (H52Q +5 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 161338	NM_000312.4(PROC):c.160A>T (p.Ser54Cys)	PROC (S54C +5 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant +2 more	GUncertain significance
Select item 2201821	NM_000312.4(PROC):c.164T>C (p.Leu55Pro)	PROC (L53P +5 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 188230	NM_000312.4(PROC):c.169C>T (p.Arg57Trp)	PROC (R57W +5 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant +2 more	GPathogenic/Likely pathogenic
Select item 664	NM_000312.4(PROC):c.185A>C (p.Glu62Ala)	PROC (E62A +5 more)	Single nucleotide variant (missense variant)	PROC-related disorder	GPathogenic
Select item 1897831	NM_000312.4(PROC):c.186G>A (p.Glu62=)	PROC	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely benign
Select item 2724455	NM_000312.4(PROC):c.198C>T (p.Phe66=)	PROC	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely benign
Select item 623191	NM_000312.4(PROC):c.199G>A (p.Glu67Lys)	PROC (E67K +5 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely pathogenic
Select item 1057421	NM_000312.4(PROC):c.205G>A (p.Ala69Thr)	PROC (A130T +5 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 964144	NM_000312.4(PROC):c.206C>T (p.Ala69Val)	PROC (A67V +5 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 2734264	NM_000312.4(PROC):c.208A>G (p.Lys70Glu)	PROC (K70E +5 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 665	NM_000312.4(PROC):c.226G>A (p.Val76Met)	PROC (V76M +5 more)	Single nucleotide variant (missense variant)	Cerebral palsy +1 more	GPathogenic/Likely pathogenic
Select item 2745397	NM_000312.4(PROC):c.236C>G (p.Thr79Arg)	PROC (T100R +5 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 2955006	NM_000312.4(PROC):c.237+15G>A	PROC	Single nucleotide variant (intron variant)	PROC-related disorder +1 more	GLikely benign
Select item 1252539	NM_000312.4(PROC):c.237+301G>A	PROC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245987	NM_000312.4(PROC):c.238-272A>G	PROC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 627040	NM_000312.4(PROC):c.238-2A>G	PROC	Single nucleotide variant (splice acceptor variant)	Thromboembolism	GLikely pathogenic
Select item 536971	NM_000312.4(PROC):c.238-1G>A	PROC	Single nucleotide variant (splice acceptor variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely pathogenic
Select item 827603	NM_000312.4(PROC):c.245T>C (p.Phe82Ser)	PROC (F103S +5 more)	Single nucleotide variant (missense variant)	Hereditary angioedema with normal C1Inh	Gnot provided
Select item 2899634	NM_000312.4(PROC):c.250T>C (p.Ser84Pro)	PROC (S105P +5 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 1678107	NM_000312.4(PROC):c.262+1G>A	PROC (G109D)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2203143	NM_000312.4(PROC):c.262+6T>G	PROC (C111G)	Single nucleotide variant (missense variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 2956353	NM_000312.4(PROC):c.262+18C>T	PROC (P115S)	Single nucleotide variant (missense variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely benign
Select item 1408925	NM_000312.4(PROC):c.263-28T>G	PROC	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GUncertain significance
Select item 2916974	NM_000312.4(PROC):c.263-19A>T	PROC	Single nucleotide variant (synonymous variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely benign
Select item 2039341	NM_000312.4(PROC):c.263-14G>T	PROC (R135L)	Single nucleotide variant (missense variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant +1 more	GBenign/Likely benign
Select item 696503	NM_000312.4(PROC):c.263-4G>A	PROC	Single nucleotide variant (synonymous variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely benign
Select item 892838	NM_000312.4(PROC):c.282C>T (p.Val94=)	PROC (S146F)	Single nucleotide variant (synonymous variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 237633	NM_000312.4(PROC):c.286C>T (p.Pro96Ser)	PROC (P96S +5 more)	Single nucleotide variant (missense variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 3050939	NM_000312.4(PROC):c.288C>T (p.Pro96=)	PROC (P148L)	Single nucleotide variant (synonymous variant +1 more)	PROC-related disorder	GLikely benign
Select item 999951	NM_000312.4(PROC):c.299C>G (p.Pro100Arg)	PROC (P100R +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 795501	NM_000312.4(PROC):c.300G>A (p.Pro100=)	PROC (R152H)	Single nucleotide variant (synonymous variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GLikely benign
Select item 2617567	NM_000312.4(PROC):c.301T>G (p.Cys101Gly)	PROC (C101G +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1455313	NM_000312.4(PROC):c.303C>A (p.Cys101Ter)	PROC (A153E +6 more)	Single nucleotide variant (nonsense +1 more)	Thrombophilia due to protein C deficiency, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 2734265	NM_000312.4(PROC):c.319G>A (p.Gly107Arg)	PROC (G135R +5 more)	Single nucleotide variant (missense variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 838069	NM_000312.4(PROC):c.326_330dup (p.Cys111fs)	PROC (C132fs +6 more)	Microsatellite (frameshift variant)	Thrombophilia due to protein C deficiency, autosomal dominant	GPathogenic
Select item 161335	NM_000312.4(PROC):c.322C>A (p.His108Asn)	PROC (H108N +5 more)	Single nucleotide variant (missense variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant +2 more	GUncertain significance
Select item 665867	NM_000312.4(PROC):c.325G>T (p.Gly109Cys)	PROC (G109C +5 more)	Single nucleotide variant (missense variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 3253048	NM_000312.4(PROC):c.329C>T (p.Thr110Met)	PROC (R162C +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303182	NM_000312.4(PROC):c.329C>G (p.Thr110Arg)	PROC (R162G +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703783	NM_000312.4(PROC):c.338_346del (p.Asp113_Ile115del)	PROC	Deletion (inframe_deletion)	Thrombophilia due to protein C deficiency, autosomal dominant	GUncertain significance
Select item 522437	NM_000312.4(PROC):c.340G>T (p.Gly114Cys)	PROC (G114C +5 more)	Single nucleotide variant (missense variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant	GPathogenic
Select item 161341	NM_000312.4(PROC):c.340G>C (p.Gly114Arg)	PROC (G114R +5 more)	Single nucleotide variant (missense variant +1 more)	Thrombophilia due to protein C deficiency, autosomal dominant +1 more	GUncertain significance

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