1281[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 147705	GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1	AGPS, ATF2 +307 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	ABI2, AGPS +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	LOC129935258, LOC129935259 +312 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	LOC129935413, LOC129935414 +1097 more	Copy number gain	See cases	GPathogenic
Select item 149200	GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1	ANKAR, ASDURF +191 more	Copy number loss	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	LOC129935268, LOC129935269 +329 more	Copy number loss	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 146486	GRCh38/hg38 2q32.2(chr2:188947503-189689613)x1	ANKAR, ASDURF +19 more	Copy number loss	See cases	GPathogenic
Select item 669800	NM_000090.3(COL3A1):c.-416A>G	COL3A1	Single nucleotide variant	not provided	GLikely benign
Select item 894871	NM_000090.3(COL3A1):c.-118T>G	COL3A1	Single nucleotide variant	Ehlers-Danlos syndrome, type 4	GBenign
Select item 333044	NM_000090.4(COL3A1):c.-101G>A	COL3A1	Single nucleotide variant (5 prime UTR variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 333045	NM_000090.4(COL3A1):c.-80G>A	COL3A1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 583627	NC_000002.11:g.(?_189839196)_(189839314_?)dup	COL3A1	Duplication	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 529340	NC_000002.12:g.(?_188974470)_(189580480_?)del	LOC129935240, COL3A1 +11 more	Deletion	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 919058	NM_000090.4(COL3A1):c.-10A>G	COL3A1	Single nucleotide variant (5 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 958729	NM_000090.4(COL3A1):c.1A>T (p.Met1Leu)	COL3A1 (M1L)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 2824645	NM_000090.4(COL3A1):c.4del (p.Met1_Met2insTer)	COL3A1	Deletion (nonsense)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 1768913	NM_000090.4(COL3A1):c.9C>A (p.Ser3Arg)	COL3A1 (S3R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 439514	NM_000090.4(COL3A1):c.13G>A (p.Val5Met)	COL3A1 (V5M)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1400615	NM_000090.4(COL3A1):c.14T>A (p.Val5Glu)	COL3A1 (V5E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2170574	NM_000090.4(COL3A1):c.18A>C (p.Gln6His)	COL3A1 (Q6H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 386330	NM_000090.4(COL3A1):c.18A>G (p.Gln6=)	COL3A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1390104	NM_000090.4(COL3A1):c.22G>A (p.Gly8Arg)	COL3A1 (G8R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 1310978	NM_000090.4(COL3A1):c.23G>A (p.Gly8Glu)	COL3A1 (G8E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1080547	NM_000090.4(COL3A1):c.24G>A (p.Gly8=)	COL3A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 101435	NM_000090.4(COL3A1):c.30G>A (p.Trp10Ter)	COL3A1 (W10*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 2884060	NM_000090.4(COL3A1):c.36T>G (p.Leu12=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 1303008	NM_000090.4(COL3A1):c.38T>C (p.Leu13Pro)	COL3A1 (L13P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1560490	NM_000090.4(COL3A1):c.39C>G (p.Leu13=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 926616	NM_000090.4(COL3A1):c.39C>T (p.Leu13=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +1 more	GLikely benign
Select item 922789	NM_000090.4(COL3A1):c.40G>T (p.Ala14Ser)	COL3A1 (A14S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 919615	NM_000090.4(COL3A1):c.40G>A (p.Ala14Thr)	COL3A1 (A14T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GUncertain significance
Select item 920739	NM_000090.4(COL3A1):c.41C>G (p.Ala14Gly)	COL3A1 (A14G)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2884126	NM_000090.4(COL3A1):c.43C>G (p.Leu15Val)	COL3A1 (L15V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 925243	NM_000090.4(COL3A1):c.50A>T (p.His17Leu)	COL3A1 (H17L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GUncertain significance
Select item 263853	NM_000090.4(COL3A1):c.52C>T (p.Pro18Ser)	COL3A1 (P18S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1925108	NM_000090.4(COL3A1):c.53C>G (p.Pro18Arg)	COL3A1 (P18R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 1995461	NM_000090.4(COL3A1):c.55A>T (p.Thr19Ser)	COL3A1 (T19S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 640237	NM_000090.4(COL3A1):c.55A>G (p.Thr19Ala)	COL3A1 (T19A)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 918653	NM_000090.4(COL3A1):c.58A>G (p.Ile20Val)	COL3A1 (I20V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 2825044	NM_000090.4(COL3A1):c.62T>A (p.Ile21Asn)	COL3A1 (I21N)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 925342	NM_000090.4(COL3A1):c.74A>G (p.Gln25Arg)	COL3A1 (Q25R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GUncertain significance
Select item 918135	NM_000090.4(COL3A1):c.76G>C (p.Glu26Gln)	COL3A1 (E26Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1760675	NM_000090.4(COL3A1):c.77A>G (p.Glu26Gly)	COL3A1 (E26G)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 862730	NM_000090.4(COL3A1):c.79+2_79+3dup	COL3A1	Duplication (splice donor variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 2816777	NM_000090.4(COL3A1):c.79+4A>G	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 1722500	NM_000090.4(COL3A1):c.79+7A>T	COL3A1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1577423	NM_000090.4(COL3A1):c.79+10T>C	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 1544072	NM_000090.4(COL3A1):c.79+16T>C	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 675437	NM_000090.4(COL3A1):c.79+204T>C	COL3A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 974723	NM_000090.4(COL3A1):c.80-489_3525+120del	COL3A1, LOC126806446 +1 more	Deletion (splice acceptor variant +1 more)	Megacolon	GUncertain significance
Select item 1291463	NM_000090.4(COL3A1):c.80-156A>G	COL3A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215284	NM_000090.4(COL3A1):c.80-152_80-130dup	COL3A1	Duplication (intron variant)	not provided	GLikely benign
Select item 1196970	NM_000090.4(COL3A1):c.80-131T>C	COL3A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676605	NM_000090.4(COL3A1):c.80-69A>G	COL3A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676606	NM_000090.4(COL3A1):c.80-21G>A	COL3A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1576794	NM_000090.4(COL3A1):c.80-18A>T	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 2066518	NM_000090.4(COL3A1):c.80-14_80-6dup	COL3A1	Duplication (intron variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 136840	NM_000090.4(COL3A1):c.80-16C>T	COL3A1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 918852	NM_000090.4(COL3A1):c.80-13del	COL3A1	Deletion (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 333046	NM_000090.4(COL3A1):c.80-13A>C	COL3A1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign/Likely benign
Select item 2695084	NM_000090.4(COL3A1):c.80-9G>C	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 752300	NM_000090.4(COL3A1):c.80-8T>C	COL3A1	Single nucleotide variant (intron variant)	COL3A1-related condition +2 more	GLikely benign
Select item 422573	NM_000090.4(COL3A1):c.80-4del	COL3A1	Deletion (intron variant)	not specified	GLikely benign
Select item 1488632	NM_000090.4(COL3A1):c.80-2A>T	COL3A1	Single nucleotide variant (splice acceptor variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 575032	NM_000090.4(COL3A1):c.80-1G>C	COL3A1	Single nucleotide variant (splice acceptor variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 923483	NM_000090.4(COL3A1):c.80C>A (p.Ala27Asp)	COL3A1 (A27D)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 404300	NM_000090.4(COL3A1):c.81del (p.Val28fs)	COL3A1 (V28fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 699870	NM_000090.4(COL3A1):c.84T>C (p.Val28=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 628748	NM_000090.4(COL3A1):c.86_88del (p.Glu29del)	COL3A1 (E29del)	Deletion (inframe_deletion)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +3 more	GUncertain significance
Select item 1949952	NM_000090.4(COL3A1):c.87A>G (p.Glu29=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 918785	NM_000090.4(COL3A1):c.87A>C (p.Glu29Asp)	COL3A1 (E29D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GConflicting classifications of pathogenicity
Select item 529327	NM_000090.4(COL3A1):c.91G>C (p.Gly31Arg)	COL3A1 (G31R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GUncertain significance
Select item 1305508	NM_000090.4(COL3A1):c.95G>A (p.Cys32Tyr)	COL3A1 (C32Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1171255	NM_000090.4(COL3A1):c.96T>C (p.Cys32=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 199751	NM_000090.4(COL3A1):c.101A>G (p.His34Arg)	COL3A1 (H34R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1365180	NM_000090.4(COL3A1):c.103C>A (p.Leu35Ile)	COL3A1 (L35I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +2 more	GUncertain significance
Select item 404307	NM_000090.4(COL3A1):c.110A>T (p.Gln37Leu)	COL3A1 (Q37L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 1330657	NM_000090.4(COL3A1):c.111G>C (p.Gln37His)	COL3A1 (Q37H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GUncertain significance
Select item 1448280	NM_000090.4(COL3A1):c.113C>A (p.Ser38Tyr)	COL3A1 (S38Y)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 1570370	NM_000090.4(COL3A1):c.114C>T (p.Ser38=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 199689	NM_000090.4(COL3A1):c.114C>G (p.Ser38=)	COL3A1	Single nucleotide variant (synonymous variant)	Connective tissue disorder +4 more	GBenign/Likely benign
Select item 1810751	NM_000090.4(COL3A1):c.117T>G (p.Tyr39Ter)	COL3A1 (Y39*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 924898	NM_000090.4(COL3A1):c.118G>A (p.Ala40Thr)	COL3A1 (A40T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GUncertain significance
Select item 925735	NM_000090.4(COL3A1):c.119C>G (p.Ala40Gly)	COL3A1 (A40G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GUncertain significance
Select item 199690	NM_000090.4(COL3A1):c.119C>T (p.Ala40Val)	COL3A1 (A40V)	Single nucleotide variant (missense variant)	Connective tissue disorder +4 more	GConflicting classifications of pathogenicity
Select item 628509	NM_000090.4(COL3A1):c.120G>A (p.Ala40=)	COL3A1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 264258	NM_000090.4(COL3A1):c.121G>A (p.Asp41Asn)	COL3A1 (D41N)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 199691	NM_000090.4(COL3A1):c.121G>T (p.Asp41Tyr)	COL3A1 (D41Y)	Single nucleotide variant (missense variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +3 more	GUncertain significance
Select item 385534	NM_000090.4(COL3A1):c.123T>C (p.Asp41=)	COL3A1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 2633032	NM_000090.4(COL3A1):c.126A>C (p.Arg42Ser)	COL3A1 (R42S)	Single nucleotide variant (missense variant)	COL3A1-related condition	GUncertain significance
Select item 1156087	NM_000090.4(COL3A1):c.129T>C (p.Asp43=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4	GLikely benign
Select item 199707	NM_000090.4(COL3A1):c.130G>A (p.Val44Ile)	COL3A1 (V44I)	Single nucleotide variant (missense variant)	not specified +3 more	GLikely benign
Select item 575406	NM_000090.4(COL3A1):c.134G>A (p.Trp45Ter)	COL3A1 (W45*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 2893926	NM_000090.4(COL3A1):c.144A>T (p.Glu48Asp)	COL3A1 (E48D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 619227	NM_000090.4(COL3A1):c.145C>G (p.Pro49Ala)	COL3A1 (P49A)	Single nucleotide variant (missense variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +1 more	GLikely pathogenic

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