ClinVar for Gene (Select 115908) - ClinVar

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Links from Gene

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2684550	GRCh37/hg19 8q22.3(chr8:104054189-105048015)x3	ATP6V1C1, BAALC +5 more	Copy number gain	not provided	GUncertain significance
Select item 2595715	NM_138455.4(CTHRC1):c.61C>G (p.Leu21Val)	CTHRC1 (L21V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557329	NM_138455.4(CTHRC1):c.5G>T (p.Arg2Leu)	CTHRC1 (R2L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513216	NM_138455.4(CTHRC1):c.117G>C (p.Lys39Asn)	CTHRC1 (K39N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483880	NM_138455.4(CTHRC1):c.425G>A (p.Ser142Asn)	CTHRC1 (S128N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2426944	NC_000008.10:g.(?_98358247)_(106815766_?)dup	ANKRD46, ATP6V1C1 +40 more	Duplication	not provided	GUncertain significance
Select item 2405966	NM_138455.4(CTHRC1):c.371C>T (p.Ala124Val)	CTHRC1 (A110V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391247	NM_138455.4(CTHRC1):c.250G>A (p.Asp84Asn)	CTHRC1 (D70N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369368	NM_138455.4(CTHRC1):c.466C>T (p.Arg156Cys)	CTHRC1 (R142C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351719	NM_138455.4(CTHRC1):c.118G>A (p.Ala40Thr)	CTHRC1 (A40T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336759	NM_138455.4(CTHRC1):c.542G>A (p.Gly181Glu)	CTHRC1 (G167E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316729	NM_138455.4(CTHRC1):c.194G>A (p.Arg65Gln)	CTHRC1 (R51Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312027	NM_138455.4(CTHRC1):c.295G>A (p.Glu99Lys)	CTHRC1 (E85K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290326	NM_138455.4(CTHRC1):c.4C>G (p.Arg2Gly)	CTHRC1 (R2G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283205	NM_138455.4(CTHRC1):c.291C>G (p.Ser97Arg)	CTHRC1 (S83R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260941	NM_138455.4(CTHRC1):c.134G>A (p.Arg45Lys)	CTHRC1 (R45K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225641	NM_138455.4(CTHRC1):c.132G>C (p.Gln44His)	CTHRC1 (Q44H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204836	NM_138455.4(CTHRC1):c.424A>C (p.Ser142Arg)	CTHRC1 (S142R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1808542	GRCh37/hg19 8q22.3(chr8:104370102-104770147)x1	CTHRC1, DCAF13 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1527458	GRCh37/hg19 8q22.3(chr8:103969554-104480106)x3	SLC25A32, CTHRC1 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1449127	NC_000008.10:g.(?_99135566)_(106815766_?)dup	ANKRD46, FZD6 +34 more	Duplication	Cohen syndrome	GUncertain significance
Select item 1050372	NM_138455.4(CTHRC1):c.467G>A (p.Arg156His)	CTHRC1 (R142H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	VPS13B, VPS28 +474 more	Copy number gain	not provided	GPathogenic
Select item 563556	GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3	DCAF13, CNGB3 +105 more	Copy number gain	not provided	GPathogenic
Select item 563493	GRCh37/hg19 8q22.3(chr8:104221791-104770147)x3	DCAF13, CTHRC1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	PPP1R16A, PPP1R42 +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	NSD3, NSMAF +665 more	Copy number gain	See cases	GPathogenic
Select item 441804	GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3	AARD, ABRA +160 more	Copy number gain	See cases	GPathogenic
Select item 441594	GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	C8orf76, CALB1 +189 more	Copy number gain	See cases	GPathogenic
Select item 395449	GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4	COLEC10, COMMD5 +228 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC130001282, LOC130001283 +1552 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001328, LOC130001329 +1067 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130000867, LOC130000868 +1686 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	GPAT4, GPAT4-AS1 +3106 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 153234	GRCh38/hg38 8q22.2-23.1(chr8:100179408-106524667)x1	LOC129390031, LOC129390032 +234 more	Copy number loss	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130001243, LOC130001244 +1204 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1329 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC130000897, LOC130000898 +1960 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	PARP10, PCAT1 +1690 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	AARD, ABRA +1531 more	Copy number gain	See cases	GPathogenic
Select item 149076	GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1	ABRA, ANGPT1 +188 more	Copy number loss	See cases	GPathogenic
Select item 147649	GRCh38/hg38 8q22.3-23.1(chr8:101199826-105802098)x1	ATP6V1C1, AZIN1 +154 more	Copy number loss	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1152 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130000908, LOC130000909 +1406 more	Copy number gain	See cases	GPathogenic
Select item 144641	GRCh38/hg38 8q22.3-23.1(chr8:101884819-107356143)x1	LOC130000899, LOC130000900 +154 more	Copy number loss	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic
Select item 30848	NM_138455.4(CTHRC1):c.131A>C (p.Gln44Pro)	CTHRC1 (Q44P)	Single nucleotide variant (missense variant)	Barrett esophagus/esophageal adenocarcinoma	GPathogenic

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Links from Gene

Items: 65