14971[HGNC] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LOC129930966, LOC129930967 +548 more	Copy number gain	See cases	GPathogenic
Select item 148454	GRCh38/hg38 1p21.3(chr1:96124445-99094525)x1	DPYD, DPYD-AS1 +28 more	Copy number loss	See cases	GUncertain significance
Select item 146007	GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1	AGL, AKNAD1 +194 more	Copy number loss	See cases	GPathogenic
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +332 more	Copy number loss	See cases	GPathogenic
Select item 150363	GRCh38/hg38 1p21.3(chr1:98477261-99235028)x1	LOC126805804, LOC129931000 +6 more	Copy number loss	See cases	GUncertain significance
Select item 153253	GRCh38/hg38 1p21.3(chr1:98603715-99120960)x1	LOC129931000, LOC129931001 +5 more	Copy number loss	See cases	GUncertain significance
Select item 2240337	NM_015976.5(SNX7):c.31C>T (p.Pro11Ser)	LOC129931001, SNX7 (P11S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2611125	NM_015976.5(SNX7):c.38C>T (p.Ser13Leu)	LOC129931001, SNX7 (S13L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2510406	NM_015976.5(SNX7):c.47C>T (p.Pro16Leu)	LOC129931001, SNX7 (P16L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2494992	NM_015976.5(SNX7):c.55G>C (p.Gly19Arg)	LOC129931001, SNX7 (G19R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2374344	NM_015976.5(SNX7):c.55G>T (p.Gly19Cys)	LOC129931001, SNX7 (G19C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2355786	NM_015976.5(SNX7):c.55G>A (p.Gly19Ser)	LOC129931001, SNX7 (G19S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2297492	NM_015976.5(SNX7):c.83G>C (p.Gly28Ala)	SNX7 (G28A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2289782	NM_015976.5(SNX7):c.89C>T (p.Pro30Leu)	SNX7 (P30L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3167335	NM_015976.5(SNX7):c.116C>T (p.Ala39Val)	SNX7 (A39V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2467696	NM_015976.5(SNX7):c.220A>C (p.Met74Leu)	SNX7 (M10L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222776	NM_015976.5(SNX7):c.241A>G (p.Met81Val)	SNX7 (M81V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298667	NM_015976.5(SNX7):c.245T>C (p.Ile82Thr)	SNX7 (I18T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275290	NM_015976.5(SNX7):c.347A>G (p.Tyr116Cys)	SNX7 (Y52C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544686	NM_015976.5(SNX7):c.356T>C (p.Ile119Thr)	SNX7 (I119T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324584	NM_015976.5(SNX7):c.419A>T (p.Asp140Val)	SNX7 (D140V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309941	NM_015976.5(SNX7):c.461C>T (p.Thr154Ile)	SNX7 (T90I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307868	NM_015976.5(SNX7):c.515G>A (p.Arg172His)	SNX7 (R108H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3167338	NM_015976.5(SNX7):c.520A>C (p.Asn174His)	SNX7 (N110H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2306813	NM_015976.5(SNX7):c.665G>C (p.Gly222Ala)	SNX7 (G222A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167340	NM_015976.5(SNX7):c.667C>G (p.Pro223Ala)	SNX7 (P159A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 719339	NM_015976.5(SNX7):c.750C>A (p.Phe250Leu)	SNX7 (F250L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2455899	NM_015976.5(SNX7):c.972G>A (p.Met324Ile)	SNX7 (M269I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167332	NM_015976.5(SNX7):c.1000G>A (p.Val334Ile)	SNX7 (V270I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243195	NM_015976.5(SNX7):c.1004T>C (p.Val335Ala)	SNX7 (V335A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167333	NM_015976.5(SNX7):c.1015G>T (p.Val339Leu)	SNX7 (V275L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549424	NM_015976.5(SNX7):c.1040G>A (p.Gly347Asp)	SNX7 (G292D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167334	NM_015976.5(SNX7):c.1139T>C (p.Ile380Thr)	SNX7 (I325T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167336	NM_015976.5(SNX7):c.1234G>A (p.Ala412Thr)	SNX7 (A357T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167337	NM_015976.5(SNX7):c.1265A>G (p.His422Arg)	SNX7 (H358R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685812	GRCh37/hg19 1p21.3-21.2(chr1:99164335-99746304)x3	PLPPR4, SNX7	Copy number gain	not provided	GUncertain significance
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565132	GRCh37/hg19 1p21.3(chr1:99164334-99233311)x1	SNX7	Copy number loss	not provided	GUncertain significance
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic

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Items: 42