26417[HGNC] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	ACKR3, AGAP1 +393 more	Copy number loss	See cases	GPathogenic
Select item 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	CCL20, CHRND +347 more	Copy number loss	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	LOC126806558, LOC126806559 +309 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088828, LOC132088829 +576 more	Copy number gain	See cases	GPathogenic
Select item 152951	GRCh38/hg38 2q36.3(chr2:229648729-230055624)x1	DNER, FBXO36 +7 more	Copy number loss	See cases	GUncertain significance
Select item 145944	GRCh38/hg38 2q36.3(chr2:229854662-230035411)x3	FBXO36, LOC129389005 +4 more	Copy number gain	See cases	GLikely benign
Select item 3318932	NM_152527.5(SLC16A14):c.1493A>G (p.Glu498Gly)	SLC16A14 (E498G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318931	NM_152527.5(SLC16A14):c.1446G>A (p.Met482Ile)	SLC16A14 (M482I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163082	NM_152527.5(SLC16A14):c.1351A>G (p.Ile451Val)	SLC16A14 (I451V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240003	NM_152527.5(SLC16A14):c.1211C>T (p.Thr404Met)	SLC16A14 (T404M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559939	NM_152527.5(SLC16A14):c.1210A>G (p.Thr404Ala)	SLC16A14 (T404A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470011	NM_152527.5(SLC16A14):c.1162G>T (p.Ala388Ser)	SLC16A14 (A388S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299273	NM_152527.5(SLC16A14):c.1123G>A (p.Asp375Asn)	SLC16A14 (D375N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305411	NM_152527.5(SLC16A14):c.1067C>T (p.Thr356Met)	LOC126806546, SLC16A14 (T356M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239319	NM_152527.5(SLC16A14):c.1061C>T (p.Pro354Leu)	LOC126806546, SLC16A14 (P354L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220755	NM_152527.5(SLC16A14):c.1028T>C (p.Leu343Ser)	LOC126806546, SLC16A14 (L343S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318933	NM_152527.5(SLC16A14):c.982A>G (p.Ser328Gly)	LOC126806546, SLC16A14 (S328G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767865	NM_152527.5(SLC16A14):c.906G>A (p.Ser302=)	LOC126806546, SLC16A14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2519278	NM_152527.5(SLC16A14):c.890T>C (p.Phe297Ser)	LOC126806546, SLC16A14 (F297S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377672	NM_152527.5(SLC16A14):c.831G>A (p.Met277Ile)	LOC126806546, SLC16A14 (M277I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163087	NM_152527.5(SLC16A14):c.737C>T (p.Thr246Ile)	LOC126806546, SLC16A14 (T246I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487232	NM_152527.5(SLC16A14):c.631C>T (p.Pro211Ser)	LOC126806546, SLC16A14 (P211S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163086	NM_152527.5(SLC16A14):c.484G>A (p.Gly162Ser)	LOC126806546, SLC16A14 (G162S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163084	NM_152527.5(SLC16A14):c.397G>A (p.Ala133Thr)	SLC16A14 (A133T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290283	NM_152527.5(SLC16A14):c.366C>A (p.Asn122Lys)	SLC16A14 (N122K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463942	NM_152527.5(SLC16A14):c.279C>G (p.Phe93Leu)	SLC16A14 (F93L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467293	NM_152527.5(SLC16A14):c.217G>A (p.Ala73Thr)	SLC16A14 (A73T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509730	NM_152527.5(SLC16A14):c.205C>T (p.Arg69Cys)	SLC16A14 (R69C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163083	NM_152527.5(SLC16A14):c.175G>A (p.Val59Met)	SLC16A14 (V59M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244486	NM_152527.5(SLC16A14):c.42T>G (p.Asp14Glu)	SLC16A14 (D14E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 2685884	GRCh37/hg19 2q36.3(chr2:230714245-230903875)x3	FBXO36, SLC16A14 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2685879	GRCh37/hg19 2q36.2-37.3(chr2:225995545-237594511)x3	ACKR3, AGAP1 +79 more	Copy number gain	not provided	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	not provided	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 1526961	GRCh37/hg19 2q36.3-37.1(chr2:229968217-231883182)	CAB39, DNER +11 more	Copy number loss	not specified	GPathogenic
Select item 1526959	GRCh37/hg19 2q36.3-37.1(chr2:228807574-235475892)	ALPG, ALPI +61 more	Copy number loss	not specified	GPathogenic
Select item 1526955	GRCh37/hg19 2q36.1-37.1(chr2:223378640-232061074)	ACSL3, AGFG1 +40 more	Copy number loss	not specified	GPathogenic
Select item 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
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 816582	GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3	ACKR3, AGAP1 +119 more	Copy number gain	not provided	GPathogenic
Select item 816581	GRCh37/hg19 2q36.3-37.1(chr2:230783729-231016862)x3	TRIP12, FBXO36 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687773	GRCh37/hg19 2q36.3(chr2:230713968-230904798)x4	FBXO36, SLC16A14 +1 more	Copy number gain	not provided	GUncertain significance
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	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 547119	GRCh37/hg19 2q36.3(chr2:230489419-230906744)x3	FBXO36, DNER +2 more	Copy number gain	not provided	GUncertain significance
Select item 446435	GRCh37/hg19 2q36.3-37.1(chr2:230411764-232019784)x1	C2orf72, CAB39 +13 more	Copy number loss	not specified	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 442425	GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3	UGT1A8, UGT1A9 +113 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 441824	GRCh37/hg19 2q36.3-37.1(chr2:230491213-231404389)x1	DNER, FBXO36 +6 more	Copy number loss	See cases	GLikely pathogenic

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Items: 60