NDST3[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	LOC129993132, LOC129993133 +420 more	Copy number loss	See cases	GPathogenic
Select item 155140	GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1	ABHD18, ADAD1 +254 more	Copy number loss	See cases	GPathogenic
Select item 153741	GRCh38/hg38 4q26(chr4:117786007-118526099)x3	LINC02264, LOC126807142 +7 more	Copy number gain	See cases	GLikely benign
Select item 3186759	NM_004784.3(NDST3):c.28C>G (p.His10Asp)	NDST3 (H10D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474162	NM_004784.3(NDST3):c.37A>G (p.Arg13Gly)	NDST3 (R13G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186773	NM_004784.3(NDST3):c.71T>G (p.Val24Gly)	NDST3 (V24G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559690	NM_004784.3(NDST3):c.74G>T (p.Ser25Ile)	NDST3 (S25I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489729	NM_004784.3(NDST3):c.444C>A (p.Ser148Arg)	NDST3 (S148R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408384	NM_004784.3(NDST3):c.521G>A (p.Ser174Asn)	NDST3 (S174N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282574	NM_004784.3(NDST3):c.551T>C (p.Ile184Thr)	NDST3 (I184T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495259	NM_004784.3(NDST3):c.560A>C (p.Asn187Thr)	NDST3 (N187T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186782	NM_004784.3(NDST3):c.751G>A (p.Gly251Ser)	NDST3 (G251S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186785	NM_004784.3(NDST3):c.881G>C (p.Gly294Ala)	NDST3 (G294A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297803	NM_004784.3(NDST3):c.884A>G (p.Lys295Arg)	NDST3 (K295R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299013	NM_004784.3(NDST3):c.888G>T (p.Arg296Ser)	NDST3 (R296S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555911	NM_004784.3(NDST3):c.940G>T (p.Val314Leu)	NDST3 (V314L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 2520793	NM_004784.3(NDST3):c.1057T>C (p.Phe353Leu)	NDST3 (F353L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186713	NM_004784.3(NDST3):c.1117G>A (p.Asp373Asn)	NDST3 (D373N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186716	NM_004784.3(NDST3):c.1175A>G (p.Asn392Ser)	NDST3 (N392S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278320	NM_004784.3(NDST3):c.1231G>A (p.Gly411Ser)	NDST3 (G411S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229567	NM_004784.3(NDST3):c.1363C>G (p.Leu455Val)	NDST3 (L455V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456586	NM_004784.3(NDST3):c.1381C>T (p.Arg461Trp)	NDST3 (R461W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186722	NM_004784.3(NDST3):c.1592T>C (p.Leu531Ser)	NDST3 (L531S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534907	NM_004784.3(NDST3):c.1595A>T (p.Tyr532Phe)	NDST3 (Y532F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544126	NM_004784.3(NDST3):c.1612G>C (p.Ala538Pro)	NDST3 (A538P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409233	NM_004784.3(NDST3):c.1759T>C (p.Ser587Pro)	NDST3 (S587P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299012	NM_004784.3(NDST3):c.1877C>G (p.Pro626Arg)	NDST3 (P626R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186732	NM_004784.3(NDST3):c.2027A>T (p.Glu676Val)	NDST3 (E676V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533261	NM_004784.3(NDST3):c.2084T>G (p.Ile695Ser)	NDST3 (I695S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186741	NM_004784.3(NDST3):c.2164T>C (p.Tyr722His)	NDST3 (Y722H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537632	NM_004784.3(NDST3):c.2206A>G (p.Arg736Gly)	NDST3 (R736G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289399	NM_004784.3(NDST3):c.2230G>C (p.Val744Leu)	NDST3 (V744L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299011	NM_004784.3(NDST3):c.2256C>G (p.Ile752Met)	NDST3 (I752M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186749	NM_004784.3(NDST3):c.2362G>A (p.Gly788Arg)	NDST3 (G788R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186753	NM_004784.3(NDST3):c.2536C>G (p.His846Asp)	NDST3 (H846D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186755	NM_004784.3(NDST3):c.2565C>G (p.His855Gln)	NDST3 (H855Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609358	NM_004784.3(NDST3):c.2597G>A (p.Arg866Lys)	NDST3 (R866K)	Single nucleotide variant (missense variant +1 more)	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 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	GPathogenic
Select item 1527119	GRCh37/hg19 4q26-28.2(chr4:116888785-129649979)	ABHD18, ADAD1 +40 more	Copy number loss	not specified	GPathogenic
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 1047888	GRCh37/hg19 4q26-28.2(chr4:116833638-130232122)	ADAD1, ANXA5 +43 more	Copy number loss	Delayed speech and language development +1 more	GPathogenic
Select item 980131	GRCh37/hg19 4q26(chr4:119130975-119516973)x3	SNHG8, PRSS12 +1 more	Copy number gain	not provided	GLikely benign
Select item 980130	GRCh37/hg19 4q26(chr4:118759227-119089758)x3	NDST3	Copy number gain	not provided	GLikely benign
Select item 686643	GRCh37/hg19 4q26(chr4:118988780-119155585)x1	NDST3	Copy number loss	not provided	GUncertain significance
Select item 635942	Single allele	SMIM43, SNHG8 +31 more	Deletion	Neurodevelopmental disorder	GLikely pathogenic
Select item 562962	GRCh37/hg19 4q26(chr4:119114102-119543843)x3	SNHG8, NDST3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 562960	GRCh37/hg19 4q26(chr4:117108352-120317108)x1	NDST3, SEC24D +9 more	Copy number loss	not provided	GUncertain significance
Select item 562959	GRCh37/hg19 4q26-28.2(chr4:116307857-129302960)x1	ABHD18, ADAD1 +40 more	Copy number loss	not provided	GPathogenic
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

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Items: 59