ClinVar for Gene (Select 64579) - ClinVar

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Links from Gene

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3299015	NM_022569.3(NDST4):c.1430G>A (p.Gly477Glu)	NDST4 (G477E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299014	NM_022569.3(NDST4):c.157A>G (p.Thr53Ala)	NDST4 (T53A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3186922	NM_022569.3(NDST4):c.734C>T (p.Ser245Leu)	NDST4 (S245L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186895	NM_022569.3(NDST4):c.2520T>G (p.Asn840Lys)	NDST4 (N840K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186884	NM_022569.3(NDST4):c.2327C>T (p.Ala776Val)	NDST4 (A776V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186865	NM_022569.3(NDST4):c.2077C>T (p.Leu693Phe)	NDST4 (L693F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186849	NM_022569.3(NDST4):c.1861A>G (p.Ile621Val)	NDST4 (I621V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186840	NM_022569.3(NDST4):c.1829T>C (p.Leu610Pro)	NDST4 (L610P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186825	NM_022569.3(NDST4):c.1690T>G (p.Phe564Val)	NDST4 (F564V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186817	NM_022569.3(NDST4):c.1579C>T (p.Arg527Cys)	NDST4 (R527C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186798	NM_022569.3(NDST4):c.1014G>C (p.Gln338His)	NDST4 (Q338H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	CAMK2D, GIMD1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2689548	NM_022569.3(NDST4):c.2035C>T (p.Arg679Ter)	NDST4 (R679*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2685985	GRCh37/hg19 4q26(chr4:115760387-116288831)x3	NDST4	Copy number gain	not provided	GUncertain significance
Select item 2655049	NM_022569.3(NDST4):c.847A>G (p.Ile283Val)	NDST4 (I283V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2655048	NM_022569.3(NDST4):c.1833T>C (p.Tyr611=)	NDST4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617875	NM_022569.3(NDST4):c.1106G>A (p.Arg369Gln)	NDST4 (R369Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596228	NM_022569.3(NDST4):c.212T>C (p.Ile71Thr)	NDST4 (I71T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595749	NM_022569.3(NDST4):c.1853C>G (p.Pro618Arg)	NDST4 (P618R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556088	NM_022569.3(NDST4):c.370G>A (p.Gly124Ser)	NDST4 (G124S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553698	NM_022569.3(NDST4):c.1409T>A (p.Val470Asp)	NDST4 (V470D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551573	NM_022569.3(NDST4):c.2065A>T (p.Ile689Phe)	NDST4 (I689F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548391	NM_022569.3(NDST4):c.2443A>G (p.Lys815Glu)	NDST4 (K815E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545568	NM_022569.3(NDST4):c.440G>A (p.Arg147Gln)	NDST4 (R147Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540853	NM_022569.3(NDST4):c.307C>G (p.Arg103Gly)	NDST4 (R103G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533562	NM_022569.3(NDST4):c.1826C>T (p.Ala609Val)	NDST4 (A609V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532485	NM_022569.3(NDST4):c.350T>C (p.Ile117Thr)	NDST4 (I117T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526178	NM_022569.3(NDST4):c.1231A>G (p.Ile411Val)	NDST4 (I411V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513212	NM_022569.3(NDST4):c.346G>T (p.Asp116Tyr)	NDST4 (D116Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512951	NM_022569.3(NDST4):c.503A>G (p.Asn168Ser)	NDST4 (N168S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511568	NM_022569.3(NDST4):c.2041G>T (p.Ala681Ser)	NDST4 (A681S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479874	NM_022569.3(NDST4):c.922A>G (p.Ile308Val)	NDST4 (I308V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468471	NM_022569.3(NDST4):c.23G>A (p.Arg8Gln)	NDST4 (R8Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410703	NM_022569.3(NDST4):c.1873C>T (p.Pro625Ser)	NDST4 (P625S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406844	NM_022569.3(NDST4):c.2474G>A (p.Arg825Gln)	NDST4 (R825Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352943	NM_022569.3(NDST4):c.2180G>A (p.Gly727Glu)	NDST4 (G727E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347391	NM_022569.3(NDST4):c.487G>A (p.Gly163Ser)	NDST4 (G163S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345772	NM_022569.3(NDST4):c.110A>G (p.Tyr37Cys)	NDST4 (Y37C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344417	NM_022569.3(NDST4):c.2507C>T (p.Thr836Met)	NDST4 (T836M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330509	NM_022569.3(NDST4):c.2075T>C (p.Ile692Thr)	NDST4 (I692T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330295	NM_022569.3(NDST4):c.2267C>A (p.Thr756Asn)	NDST4 (T756N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304119	NM_022569.3(NDST4):c.154T>C (p.Cys52Arg)	NDST4 (C52R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273373	NM_022569.3(NDST4):c.1936G>C (p.Asp646His)	NDST4 (D646H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269652	NM_022569.3(NDST4):c.844C>T (p.Leu282Phe)	NDST4 (L282F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269265	NM_022569.3(NDST4):c.2233G>A (p.Gly745Arg)	NDST4 (G745R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254187	NM_022569.3(NDST4):c.808C>T (p.Leu270Phe)	NDST4 (L270F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235704	NM_022569.3(NDST4):c.674A>G (p.Tyr225Cys)	NDST4 (Y225C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235505	NM_022569.3(NDST4):c.2176A>G (p.Thr726Ala)	NDST4 (T726A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2233761	NM_022569.3(NDST4):c.43A>G (p.Ile15Val)	NDST4 (I15V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232273	NM_022569.3(NDST4):c.1004T>G (p.Leu335Arg)	NDST4 (L335R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1328453	GRCh37/hg19 4q26-28.3(chr4:114872547-138005267)x1	TNIP3, TRPC3 +48 more	Copy number loss	not provided	GPathogenic
Select item 980128	GRCh37/hg19 4q26(chr4:115928191-116099197)x1	NDST4	Copy number loss	not provided	GLikely benign
Select item 980127	GRCh37/hg19 4q26(chr4:115844816-116266652)x3	NDST4	Copy number gain	not provided	GLikely benign
Select item 562958	GRCh37/hg19 4q26(chr4:115565977-115890735)x3	NDST4, UGT8	Copy number gain	not provided	GUncertain significance
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 145621	GRCh38/hg38 4q25-26(chr4:111069785-116691879)x1	ALPK1, ANK2 +85 more	Copy number loss	See cases	GLikely pathogenic
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 64