113263[geneid] - ClinVar

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Search results

Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 57254	GRCh38/hg38 7p22.1-21.3(chr7:6106402-11012657)x1	C1GALT1, CCZ1B +131 more	Copy number loss	See cases	GPathogenic
Select item 149268	GRCh38/hg38 7p22.1-21.3(chr7:6831253-8010127)x3	C1GALT1, COL28A1 +42 more	Copy number gain	See cases	GLikely benign
Select item 148676	GRCh38/hg38 7p22.1-21.3(chr7:6887830-8054546)x3	C1GALT1, COL28A1 +43 more	Copy number gain	See cases	GUncertain significance
Select item 150899	GRCh38/hg38 7p21.3(chr7:7249455-10718595)x3	COL28A1, GLCCI1 +62 more	Copy number gain	See cases	GLikely benign
Select item 150871	GRCh38/hg38 7p21.3(chr7:7815001-8767755)x3	GLCCI1, GLCCI1-DT +26 more	Copy number gain	See cases	GLikely benign
Select item 31152	NM_138426.2(GLCCI1):c.-1106G=	GLCCI1, GLCCI1-DT	Single nucleotide variant	Glucocorticoid therapy, response to	Gdrug response
Select item 3100102	NM_138426.4(GLCCI1):c.13T>G (p.Ser5Ala)	GLCCI1, LOC129997981 (S5A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379265	NM_138426.4(GLCCI1):c.101T>G (p.Val34Gly)	GLCCI1 (V34G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210804	NM_138426.4(GLCCI1):c.112G>C (p.Gly38Arg)	GLCCI1, LOC129997982 (G38R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210805	NM_138426.4(GLCCI1):c.116G>C (p.Ser39Thr)	GLCCI1, LOC129997982 (S39T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463808	NM_138426.4(GLCCI1):c.124G>A (p.Gly42Ser)	GLCCI1, LOC129997982 (G42S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210806	NM_138426.4(GLCCI1):c.125G>C (p.Gly42Ala)	GLCCI1, LOC129997982 (G42A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213372	NM_138426.4(GLCCI1):c.127G>C (p.Ala43Pro)	GLCCI1, LOC129997982 (A43P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349737	NM_138426.4(GLCCI1):c.130G>A (p.Gly44Ser)	GLCCI1, LOC129997982 (G44S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379637	NM_138426.4(GLCCI1):c.151T>G (p.Cys51Gly)	GLCCI1, LOC129997982 (C51G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380339	NM_138426.4(GLCCI1):c.153C>G (p.Cys51Trp)	GLCCI1, LOC129997982 (C51W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344075	NM_138426.4(GLCCI1):c.154G>T (p.Ala52Ser)	GLCCI1, LOC129997982 (A52S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100103	NM_138426.4(GLCCI1):c.167G>C (p.Gly56Ala)	GLCCI1, LOC129997982 (G56A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657321	NM_138426.4(GLCCI1):c.299C>T (p.Ala100Val)	GLCCI1, LOC129997983 (A100V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2208768	NM_138426.4(GLCCI1):c.305G>T (p.Arg102Leu)	GLCCI1, LOC129997983 (R102L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382487	NM_138426.4(GLCCI1):c.313A>C (p.Ser105Arg)	GLCCI1, LOC129997983 (S105R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100104	NM_138426.4(GLCCI1):c.314G>C (p.Ser105Thr)	GLCCI1, LOC129997983 (S105T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384799	NM_138426.4(GLCCI1):c.319T>G (p.Ser107Ala)	GLCCI1, LOC129997983 (S107A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382488	NM_138426.4(GLCCI1):c.322A>C (p.Ser108Arg)	GLCCI1, LOC129997983 (S108R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410287	NM_138426.4(GLCCI1):c.331C>G (p.Pro111Ala)	GLCCI1, LOC129997983 (P111A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265069	NM_138426.4(GLCCI1):c.350C>T (p.Pro117Leu)	GLCCI1 (P117L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374805	NM_138426.4(GLCCI1):c.355G>A (p.Glu119Lys)	GLCCI1 (E119K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512701	NM_138426.4(GLCCI1):c.371C>T (p.Ala124Val)	GLCCI1 (A124V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100105	NM_138426.4(GLCCI1):c.443C>T (p.Ser148Leu)	GLCCI1 (S148L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454704	NM_138426.4(GLCCI1):c.458C>T (p.Ala153Val)	GLCCI1 (A153V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3100106	NM_138426.4(GLCCI1):c.499A>G (p.Ile167Val)	GLCCI1 (I167V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271428	NM_138426.4(GLCCI1):c.559C>T (p.Arg187Trp)	GLCCI1 (R187W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1050323	NM_138426.4(GLCCI1):c.589A>C (p.Met197Leu)	GLCCI1 (M197L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2247915	NM_138426.4(GLCCI1):c.619T>A (p.Cys207Ser)	GLCCI1 (C207S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100108	NM_138426.4(GLCCI1):c.793A>G (p.Ile265Val)	GLCCI1 (I265V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100109	NM_138426.4(GLCCI1):c.795A>G (p.Ile265Met)	GLCCI1 (I265M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100110	NM_138426.4(GLCCI1):c.806A>T (p.His269Leu)	GLCCI1 (H269L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515360	NM_138426.4(GLCCI1):c.880C>T (p.Arg294Cys)	GLCCI1 (R294C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265067	NM_138426.4(GLCCI1):c.1067G>A (p.Arg356His)	GLCCI1 (R356H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549778	NM_138426.4(GLCCI1):c.1099G>C (p.Val367Leu)	GLCCI1 (V367L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100099	NM_138426.4(GLCCI1):c.1118C>T (p.Pro373Leu)	GLCCI1 (P373L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100100	NM_138426.4(GLCCI1):c.1145C>T (p.Ser382Leu)	GLCCI1 (S382L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303730	NM_138426.4(GLCCI1):c.1226C>G (p.Pro409Arg)	GLCCI1 (P409R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339814	NM_138426.4(GLCCI1):c.1313T>C (p.Ile438Thr)	GLCCI1 (I438T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1049733	NM_138426.4(GLCCI1):c.1382G>C (p.Cys461Ser)	GLCCI1 (C461S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2549220	NM_138426.4(GLCCI1):c.1541G>A (p.Gly514Asp)	GLCCI1 (G514D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619923	NM_138426.4(GLCCI1):c.1546A>T (p.Met516Leu)	GLCCI1 (M516L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684469	GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3	PSMG3, RAC1 +73 more	Copy number gain	not provided	GPathogenic
Select item 1810289	GRCh37/hg19 7p21.3(chr7:7516346-8018481)x1	COL28A1, GLCCI1 +2 more	Copy number loss	not provided	Gnot provided
Select item 1711132	GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3	MAD1L1, MAFK +73 more	Copy number gain	See cases	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1708194	GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3	ACTB, ADAP1 +98 more	Copy number gain	See cases	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1341133	GRCh37/hg19 7p21.3-21.1(chr7:7909867-17213072)x1	AGMO, AGR2 +20 more	Copy number loss	not provided	GUncertain significance
Select item 814930	GRCh37/hg19 7p21.3(chr7:8001572-8284937)x3	ICA1, GLCCI1	Copy number gain	not provided	GUncertain significance
Select item 814929	GRCh37/hg19 7p21.3(chr7:7800238-8014026)x1	GLCCI1	Copy number loss	not provided	GUncertain significance
Select item 814928	GRCh37/hg19 7p22.1-21.3(chr7:6864233-8137002)x3	C1GALT1, GLCCI1 +4 more	Copy number gain	not provided	GLikely benign
Select item 814914	GRCh37/hg19 7p22.3-21.3(chr7:1648373-10627513)x3	ACTB, AIMP2 +54 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687401	GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3	ACTB, ADAP1 +98 more	Copy number gain	not provided	GPathogenic
Select item 446329	GRCh37/hg19 7p22.3-21.3(chr7:2789546-9066894)x3	AP5Z1, C1GALT1 +42 more	Copy number gain	See cases	GPathogenic
Select item 443071	GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3	ACTB, ADAP1 +76 more	Copy number gain	See cases	GPathogenic
Select item 442857	GRCh37/hg19 7p21.3-21.1(chr7:7660104-18400293)x3	AGMO, AGR2 +25 more	Copy number gain	See cases	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442824	GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	ABCB5, ACTB +158 more	Copy number gain	See cases	GPathogenic
Select item 442624	GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3	ABCB5, ACTB +121 more	Copy number gain	See cases	GPathogenic
Select item 442503	GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3	DAGLB, DNAAF5 +76 more	Copy number gain	See cases	GPathogenic
Select item 442294	GRCh37/hg19 7p21.3(chr7:7484861-9088037)x3	COL28A1, GLCCI1 +4 more	Copy number gain	See cases	GLikely benign
Select item 442159	GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3	ACTB, ADAP1 +82 more	Copy number gain	See cases	GPathogenic
Select item 394728	GRCh37/hg19 7p22.1-21.3(chr7:6870884-8177933)x3	C1GALT1, COL28A1 +4 more	Copy number gain	See cases	GUncertain significance
Select item 393941	GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3	TNRC18, TTYH3 +80 more	Copy number gain	See cases	GPathogenic

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Items: 80