ClinVar for Gene (Select 10190) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3185193	NM_005783.4(TXNDC9):c.545C>T (p.Ser182Phe)	TXNDC9 (S182F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185192	NM_005783.4(TXNDC9):c.306C>G (p.Phe102Leu)	TXNDC9 (F102L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185191	NM_005783.4(TXNDC9):c.136C>T (p.Arg46Cys)	TXNDC9 (R46C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685857	GRCh37/hg19 2q11.1-11.2(chr2:95773428-102550061)x3	ACTR1B, ADRA2B +64 more	Copy number gain	not provided	GLikely pathogenic
Select item 2547817	NM_005783.4(TXNDC9):c.354C>A (p.His118Gln)	TXNDC9 (H118Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535674	NM_005783.4(TXNDC9):c.167G>A (p.Arg56Lys)	TXNDC9 (R56K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2407686	NM_005783.4(TXNDC9):c.388A>G (p.Lys130Glu)	TXNDC9 (K130E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365359	NM_005783.4(TXNDC9):c.490C>G (p.Leu164Val)	TXNDC9 (L164V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320414	NM_005783.4(TXNDC9):c.637A>C (p.Thr213Pro)	TXNDC9 (T213P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289431	NM_005783.4(TXNDC9):c.137G>A (p.Arg46His)	TXNDC9 (R46H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809205	GRCh37/hg19 2q11.2(chr2:99865439-100005128)x1	EIF5B, LYG1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1808615	GRCh37/hg19 2q11.1-11.2(chr2:95341388-100340514)x3	ACTR1B, ADRA2B +54 more	Copy number gain	not provided	GLikely pathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 980468	GRCh37/hg19 2q11.2(chr2:99356669-99984607)x3	LYG2, TXNDC9 +8 more	Copy number gain	not provided	GUncertain significance
Select item 814286	GRCh37/hg19 2q11.2(chr2:99870148-100416209)x3	AFF3, LYG1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 688876	GRCh37/hg19 2q11.2(chr2:99542665-100190293)x1	AFF3, C2orf15 +10 more	Copy number loss	not provided	GUncertain significance
Select item 562679	GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3	C2orf15, C2orf49 +122 more	Copy number gain	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 443415	GRCh37/hg19 2q11.1-12.2(chr2:95518497-107186127)	ACTR1B, ADRA2B +86 more	Copy number gain	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 395690	GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266)	ACTR1B, ADRA2B +88 more	Copy number gain	See cases	GPathogenic
Select item 394206	GRCh37/hg19 2q11.1-11.2(chr2:95691600-100587394)	AFF3, ADRA2B +53 more	Copy number gain	See cases	GPathogenic
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 150339	GRCh38/hg38 2q11.2(chr2:98411773-101636907)x1	AFF3, C2orf15 +114 more	Copy number loss	See cases	GLikely pathogenic
Select item 147769	GRCh38/hg38 2q11.2(chr2:99253497-101559639)x3	AFF3, CHST10 +69 more	Copy number gain	See cases	GUncertain significance
Select item 60183	GRCh38/hg38 2q11.2(chr2:98787057-100785053)x1	AFF3, C2orf15 +56 more	Copy number loss	See cases	GPathogenic
Select item 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
Select item 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934355, LOC129934356 +348 more	Copy number gain	See cases	GPathogenic
Select item 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 31