6556[geneid] - ClinVar

Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	ABCA12, ABCB6 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC126806461, LOC126806467 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	OR6B3, OTOS +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	AAMP, ABCB6 +986 more	Copy number gain	See cases	GPathogenic
Select item 2511431	NM_000578.4(SLC11A1):c.34G>A (p.Gly12Arg)	SLC11A1 (G12R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3025428	NM_000578.4(SLC11A1):c.36G>A (p.Gly12=)	SLC11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2403698	NM_000578.4(SLC11A1):c.62C>T (p.Pro21Leu)	SLC11A1 (P21L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362137	NM_000578.4(SLC11A1):c.71C>T (p.Pro24Leu)	SLC11A1 (P24L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3055747	NM_000578.4(SLC11A1):c.115C>T (p.Leu39=)	SLC11A1	Single nucleotide variant (synonymous variant)	SLC11A1-related condition	GBenign
Select item 2263847	NM_000578.4(SLC11A1):c.149C>T (p.Pro50Leu)	SLC11A1 (P50L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328057	NM_000578.4(SLC11A1):c.155C>T (p.Thr52Ile)	SLC11A1 (T52I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 9232	NM_000578.4(SLC11A1):c.198C>T (p.Phe66=)	SLC11A1	Single nucleotide variant (synonymous variant)	Mycobacterium tuberculosis, susceptibility to infection by	Grisk factor
Select item 2557974	NM_000578.4(SLC11A1):c.220G>C (p.Asp74His)	SLC11A1 (D74H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234346	NM_000578.4(SLC11A1):c.296C>T (p.Ala99Val)	SLC11A1 (A99V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 762252	NM_000578.4(SLC11A1):c.324A>T (p.Arg108=)	SLC11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2526007	NM_000578.4(SLC11A1):c.367G>A (p.Glu123Lys)	SLC11A1 (E123K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469782	NM_000578.4(SLC11A1):c.406G>A (p.Val136Ile)	SLC11A1 (V136I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463748	NM_000578.4(SLC11A1):c.433A>T (p.Ile145Phe)	SLC11A1 (I145F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370882	NM_000578.4(SLC11A1):c.473T>C (p.Ile158Thr)	SLC11A1 (I158T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 769587	NM_000578.4(SLC11A1):c.501-4T>G	SLC11A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2362136	NM_000578.4(SLC11A1):c.505C>A (p.Pro169Thr)	SLC11A1 (P169T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 783127	NM_000578.4(SLC11A1):c.522C>T (p.Val174=)	SLC11A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2225725	NM_000578.4(SLC11A1):c.545T>C (p.Phe182Ser)	SLC11A1 (F182S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324431	NM_000578.4(SLC11A1):c.558C>G (p.Phe186Leu)	SLC11A1 (F186L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 713784	NM_000578.4(SLC11A1):c.571+8C>T	SLC11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2466961	NM_000578.4(SLC11A1):c.644T>C (p.Val215Ala)	SLC11A1 (V215A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530094	NM_000578.4(SLC11A1):c.658G>C (p.Glu220Gln)	SLC11A1 (E220Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476397	NM_000578.4(SLC11A1):c.660G>C (p.Glu220Asp)	SLC11A1 (E220D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2507547	NM_000578.4(SLC11A1):c.731C>T (p.Ala244Val)	SLC11A1 (A244V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3055354	NM_000578.4(SLC11A1):c.747C>T (p.Gly249=)	SLC11A1	Single nucleotide variant (synonymous variant)	SLC11A1-related condition	GBenign
Select item 3040629	NM_000578.4(SLC11A1):c.796-5C>T	SLC11A1	Single nucleotide variant (intron variant)	SLC11A1-related condition	GLikely benign
Select item 3035428	NM_000578.4(SLC11A1):c.796-4G>A	SLC11A1	Single nucleotide variant (intron variant)	SLC11A1-related condition	GLikely benign
Select item 638469	NM_000578.4(SLC11A1):c.806T>C (p.Ile269Thr)	SLC11A1 (I269T)	Single nucleotide variant (missense variant)	Mycobacterium tuberculosis, susceptibility to	GUncertain significance
Select item 1049687	NM_000578.4(SLC11A1):c.811C>T (p.Arg271Trp)	SLC11A1 (R271W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2382782	NM_000578.4(SLC11A1):c.812G>A (p.Arg271Gln)	SLC11A1 (R271Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356907	NM_000578.4(SLC11A1):c.821G>A (p.Arg274Gln)	SLC11A1 (R274Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273469	NM_000578.4(SLC11A1):c.824C>G (p.Ala275Gly)	SLC11A1 (A275G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281346	NM_000578.4(SLC11A1):c.862G>A (p.Ala288Thr)	SLC11A1 (A288T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3040630	NM_000578.4(SLC11A1):c.870C>T (p.Ile290=)	SLC11A1	Single nucleotide variant (synonymous variant)	SLC11A1-related condition	GLikely benign
Select item 3033569	NM_000578.4(SLC11A1):c.875T>C (p.Leu292Pro)	SLC11A1 (L292P)	Single nucleotide variant (missense variant)	SLC11A1-related condition	GLikely benign
Select item 2594861	NM_000578.4(SLC11A1):c.878C>T (p.Ser293Phe)	SLC11A1 (S293F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368525	NM_000578.4(SLC11A1):c.908T>C (p.Met303Thr)	SLC11A1 (M303T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1048994	NM_000578.4(SLC11A1):c.943A>C (p.Asn315His)	SLC11A1 (N315H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2389641	NM_000578.4(SLC11A1):c.984C>A (p.His328Gln)	SLC11A1 (H328Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 736747	NM_000578.4(SLC11A1):c.1045-7C>T	SLC11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 724986	NM_000578.4(SLC11A1):c.1048G>A (p.Val350Met)	SLC11A1 (V350M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2240848	NM_000578.4(SLC11A1):c.1052T>C (p.Ile351Thr)	SLC11A1 (I351T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234818	NM_000578.4(SLC11A1):c.1075G>A (p.Ala359Thr)	SLC11A1 (A359T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228608	NM_000578.4(SLC11A1):c.1114G>A (p.Gly372Arg)	SLC11A1 (G372R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3045914	NM_000578.4(SLC11A1):c.1143C>T (p.Tyr381=)	SLC11A1	Single nucleotide variant (synonymous variant)	SLC11A1-related condition	GLikely benign
Select item 2568581	NM_000578.4(SLC11A1):c.1155C>G (p.Phe385Leu)	SLC11A1 (F385L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 716740	NM_000578.4(SLC11A1):c.1165-7A>C	SLC11A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2247717	NM_000578.4(SLC11A1):c.1194C>G (p.Phe398Leu)	SLC11A1 (F398L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324793	NM_000578.4(SLC11A1):c.1199G>A (p.Arg400His)	SLC11A1 (R400H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615491	NM_000578.4(SLC11A1):c.1214G>T (p.Arg405Leu)	SLC11A1 (R405L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 736428	NM_000578.4(SLC11A1):c.1255C>A (p.Arg419=)	SLC11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3035789	NM_000578.4(SLC11A1):c.1256G>A (p.Arg419Gln)	SLC11A1 (R419Q)	Single nucleotide variant (missense variant)	SLC11A1-related condition	GBenign
Select item 2492864	NM_000578.4(SLC11A1):c.1265G>A (p.Arg422Lys)	SLC11A1 (R422K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479445	NM_000578.4(SLC11A1):c.1283A>G (p.Asn428Ser)	SLC11A1 (N428S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488783	NM_000578.4(SLC11A1):c.1325C>T (p.Ala442Val)	SLC11A1 (A442V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359274	NM_000578.4(SLC11A1):c.1327G>A (p.Val443Met)	SLC11A1 (V443M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 787164	NM_000578.4(SLC11A1):c.1328T>C (p.Val443Ala)	SLC11A1 (V443A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2410879	NM_000578.4(SLC11A1):c.1382A>G (p.Asn461Ser)	SLC11A1 (N461S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531779	NM_000578.4(SLC11A1):c.1432G>A (p.Ala478Thr)	SLC11A1 (A478T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554216	NM_000578.4(SLC11A1):c.1487A>G (p.Tyr496Cys)	SLC11A1 (Y496C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 731804	NM_000578.4(SLC11A1):c.1492G>A (p.Gly498Ser)	SLC11A1 (G498S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2327874	NM_000578.4(SLC11A1):c.1499C>T (p.Ala500Val)	SLC11A1 (A500V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2409712	NM_000578.4(SLC11A1):c.1567G>A (p.Gly523Arg)	SLC11A1 (G523R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 9233	NM_000578.4(SLC11A1):c.1627G>A (p.Asp543Asn)	SLC11A1 (D543N)	Single nucleotide variant (missense variant)	Buruli ulcer, susceptibility to	Grisk factor
Select item 2604627	NM_000578.4(SLC11A1):c.1645T>C (p.Ser549Pro)	SLC11A1 (S549P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	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 1526952	GRCh37/hg19 2q35(chr2:218210665-220141650)	AAMP, ABCB6 +42 more	Copy number gain	not specified	GUncertain significance
Select item 1526950	GRCh37/hg19 2q34-36.1(chr2:215108009-221679980)	AAMP, ABCA12 +72 more	Copy number gain	not specified	GPathogenic
Select item 1434778	NC_000002.11:g.(?_218999525)_(220435954_?)dup	DES, DNAJB2 +50 more	Duplication	Alacrima, achalasia, and intellectual disability syndrome +1 more	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 980004	GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1	AAMP, ABCA12 +66 more	Copy number loss	not provided	GLikely pathogenic
Select item 816573	GRCh37/hg19 2q35(chr2:216883237-220953003)x3	CXCR2, FEV +65 more	Copy number gain	not provided	GPathogenic
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 625776	GRCh37/hg19 2q35(chr2:218271898-219825640)	AAMP, ARPC2 +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 583449	NC_000002.11:g.(?_219135239)_(220290732_?)del	PTPRN, RESP18 +39 more	Deletion	Desmin-related myofibrillar myopathy	GPathogenic
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 562674	GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1	AAMP, ABCB6 +71 more	Copy number loss	not provided	GPathogenic
Select item 562550	GRCh37/hg19 2q35(chr2:219139778-219368933)x3	CTDSP1, CATIP +6 more	Copy number gain	not provided	GUncertain significance
Select item 493568	GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1	IRS1, KCNE4 +77 more	Copy number loss	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic
Select item 221429	GRCh37/hg19 2q35(chr2:219221864-219423299)x3	CATIP, CTDSP1 +4 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 94