24013[HGNC] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic
Select item 2475722	NM_014597.5(DNTTIP2):c.2165C>G (p.Ser722Cys)	DNTTIP2 (S722C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541940	NM_014597.5(DNTTIP2):c.2080G>C (p.Val694Leu)	DNTTIP2 (V694L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084864	NM_014597.5(DNTTIP2):c.1993A>G (p.Lys665Glu)	DNTTIP2 (K665E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314706	NM_014597.5(DNTTIP2):c.1961C>G (p.Thr654Arg)	DNTTIP2 (T654R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273272	NM_014597.5(DNTTIP2):c.1957A>G (p.Met653Val)	DNTTIP2 (M653V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249823	NM_014597.5(DNTTIP2):c.1940G>C (p.Gly647Ala)	DNTTIP2 (G647A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455418	NM_014597.5(DNTTIP2):c.1898G>A (p.Arg633His)	DNTTIP2 (R633H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517930	NM_014597.5(DNTTIP2):c.1822G>A (p.Val608Ile)	DNTTIP2 (V608I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2273188	NM_014597.5(DNTTIP2):c.1790A>C (p.Glu597Ala)	DNTTIP2 (E597A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273269	NM_014597.5(DNTTIP2):c.1721G>A (p.Gly574Asp)	DNTTIP2 (G574D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084863	NM_014597.5(DNTTIP2):c.1609G>A (p.Glu537Lys)	DNTTIP2 (E537K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323867	NM_014597.5(DNTTIP2):c.1576G>A (p.Glu526Lys)	DNTTIP2 (E526K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084862	NM_014597.5(DNTTIP2):c.1529A>G (p.Lys510Arg)	DNTTIP2 (K510R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084861	NM_014597.5(DNTTIP2):c.1505A>C (p.Asn502Thr)	DNTTIP2 (N502T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237386	NM_014597.5(DNTTIP2):c.1483C>A (p.Pro495Thr)	DNTTIP2 (P495T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514545	NM_014597.5(DNTTIP2):c.1375G>A (p.Glu459Lys)	DNTTIP2 (E459K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478430	NM_014597.5(DNTTIP2):c.1364A>T (p.Asn455Ile)	DNTTIP2 (N455I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084860	NM_014597.5(DNTTIP2):c.1338C>G (p.Ser446Arg)	DNTTIP2 (S446R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340906	NM_014597.5(DNTTIP2):c.1334T>G (p.Leu445Arg)	DNTTIP2 (L445R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084859	NM_014597.5(DNTTIP2):c.1235T>C (p.Met412Thr)	DNTTIP2 (M412T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084858	NM_014597.5(DNTTIP2):c.1192G>A (p.Asp398Asn)	DNTTIP2 (D398N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613468	NM_014597.5(DNTTIP2):c.1121G>T (p.Arg374Ile)	DNTTIP2 (R374I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084857	NM_014597.5(DNTTIP2):c.1040C>T (p.Ala347Val)	DNTTIP2 (A347V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273271	NM_014597.5(DNTTIP2):c.1036A>C (p.Asn346His)	DNTTIP2 (N346H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246333	NM_014597.5(DNTTIP2):c.976C>T (p.Leu326Phe)	DNTTIP2 (L326F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084873	NM_014597.5(DNTTIP2):c.844G>A (p.Glu282Lys)	DNTTIP2 (E282K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3084872	NM_014597.5(DNTTIP2):c.809C>T (p.Ser270Phe)	DNTTIP2 (S270F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2532424	NM_014597.5(DNTTIP2):c.775A>G (p.Asn259Asp)	DNTTIP2 (N259D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273268	NM_014597.5(DNTTIP2):c.749G>T (p.Arg250Ile)	DNTTIP2 (R250I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616669	NM_014597.5(DNTTIP2):c.623G>C (p.Arg208Thr)	DNTTIP2 (R208T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084870	NM_014597.5(DNTTIP2):c.598A>G (p.Thr200Ala)	DNTTIP2 (T200A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213681	NM_014597.5(DNTTIP2):c.598A>C (p.Thr200Pro)	DNTTIP2 (T200P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204477	NM_014597.5(DNTTIP2):c.584T>C (p.Phe195Ser)	DNTTIP2 (F195S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084868	NM_014597.5(DNTTIP2):c.580T>G (p.Ser194Ala)	DNTTIP2 (S194A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378026	NM_014597.5(DNTTIP2):c.518A>G (p.Asp173Gly)	DNTTIP2 (D173G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084867	NM_014597.5(DNTTIP2):c.361A>G (p.Ser121Gly)	DNTTIP2 (S121G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553288	NM_014597.5(DNTTIP2):c.221C>T (p.Ser74Leu)	DNTTIP2 (S74L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084866	NM_014597.5(DNTTIP2):c.210A>T (p.Arg70Ser)	DNTTIP2 (R70S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273270	NM_014597.5(DNTTIP2):c.127G>T (p.Ala43Ser)	DNTTIP2 (A43S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084871	NM_014597.5(DNTTIP2):c.77T>C (p.Phe26Ser)	DNTTIP2 (F26S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2322788	NM_014597.5(DNTTIP2):c.71A>G (p.Lys24Arg)	DNTTIP2 (K24R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539101	NM_014597.5(DNTTIP2):c.34A>C (p.Ser12Arg)	DNTTIP2 (S12R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063166	GRCh37/hg19 1p22.1-21.3(chr1:94304238-97280301)x3	ABCA4, ABCD3 +11 more	Copy number gain	not specified	GUncertain significance
Select item 979885	GRCh37/hg19 1p22.1(chr1:94216477-94471075)x3	ABCA4, BCAR3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 814108	GRCh37/hg19 1p22.1-21.3(chr1:93863518-96108930)x1	ABCA4, ABCD3 +11 more	Copy number loss	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565126	GRCh37/hg19 1p22.1(chr1:93986681-94575458)x3	ABCA4, BCAR3 +3 more	Copy number gain	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)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 51