24502[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 506642	NM_001083961.2(WDR62):c.-35A>G	WDR62	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 3337744	NM_001083961.2(WDR62):c.5C>A (p.Ala2Glu)	WDR62 (A2E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 328904	NM_001083961.2(WDR62):c.10G>C (p.Val4Leu)	WDR62 (V4L)	Single nucleotide variant (missense variant)	Primary Microcephaly 2 With or Without Cortical Malformations +2 more	GConflicting classifications of pathogenicity
Select item 2184915	NM_001083961.2(WDR62):c.14G>A (p.Gly5Glu)	WDR62 (G5E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 586938	NM_001083961.2(WDR62):c.16T>G (p.Ser6Ala)	WDR62 (S6A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1606722	NM_001083961.2(WDR62):c.21A>T (p.Gly7=)	WDR62	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1405313	NM_001083961.2(WDR62):c.26A>G (p.Tyr9Cys)	WDR62 (Y9C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 193156	NM_001083961.2(WDR62):c.28G>T (p.Ala10Ser)	WDR62 (A10S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 160280	NM_001083961.2(WDR62):c.32G>C (p.Arg11Pro)	WDR62 (R11P)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 289838	NM_001083961.2(WDR62):c.37G>C (p.Asp13His)	WDR62 (D13H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1982801	NM_001083961.2(WDR62):c.40G>T (p.Ala14Ser)	WDR62 (A14S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2081863	NM_001083961.2(WDR62):c.50A>C (p.Lys17Thr)	WDR62 (K17T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2120676	NM_001083961.2(WDR62):c.56C>T (p.Pro19Leu)	WDR62 (P19L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 750978	NM_001083961.2(WDR62):c.57C>G (p.Pro19=)	WDR62	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 890930	NM_001083961.2(WDR62):c.64A>C (p.Met22Leu)	WDR62 (M22L)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 2438581	NM_001083961.2(WDR62):c.66G>A (p.Met22Ile)	WDR62 (M22I)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 2025818	NM_001083961.2(WDR62):c.69G>A (p.Ala23=)	WDR62	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 631811	NM_001083961.2(WDR62):c.75dup (p.Pro26fs)	WDR62 (P26fs)	Duplication (frameshift variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 290415	NM_001083961.2(WDR62):c.82C>T (p.Arg28Trp)	WDR62 (R28W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 160307	NM_001083961.2(WDR62):c.82C>G (p.Arg28Gly)	WDR62 (R28G)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 2777792	NM_001083961.2(WDR62):c.105C>T (p.Pro35=)	WDR62	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 218506	NM_001083961.2(WDR62):c.109G>C (p.Ala37Pro)	WDR62 (A37P)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2126564	NM_001083961.2(WDR62):c.116C>G (p.Pro39Arg)	WDR62 (P39R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 977873	NM_001083961.2(WDR62):c.118A>G (p.Ile40Val)	WDR62 (I40V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 890931	NM_001083961.2(WDR62):c.121T>A (p.Cys41Ser)	WDR62 (C41S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2232882	NM_001083961.2(WDR62):c.136A>C (p.Thr46Pro)	WDR62 (T46P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 797533	NM_001083961.2(WDR62):c.138G>A (p.Thr46=)	WDR62	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 93535	NM_001083961.2(WDR62):c.142C>T (p.Leu48Phe)	WDR62 (L48F)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1972317	NM_001083961.2(WDR62):c.148A>T (p.Thr50Ser)	WDR62 (T50S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2512094	NM_001083961.2(WDR62):c.152C>A (p.Ala51Asp)	WDR62 (A51D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 93536	NM_001083961.2(WDR62):c.156C>G (p.Ser52=)	WDR62	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 892161	NM_001083961.2(WDR62):c.159G>A (p.Glu53=)	WDR62	Single nucleotide variant (synonymous variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 1537590	NM_001083961.2(WDR62):c.165G>A (p.Thr55=)	WDR62	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 670275	NM_001083961.2(WDR62):c.177+177C>G	WDR62	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1329575	NM_001083961.2(WDR62):c.178-26C>T	WDR62	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 160258	NM_001083961.2(WDR62):c.180G>A (p.Val60=)	WDR62	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 160259	NM_001083961.2(WDR62):c.186C>G (p.Leu62=)	WDR62	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 137909	NM_001083961.2(WDR62):c.186C>T (p.Leu62=)	WDR62	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 195110	NM_001083961.2(WDR62):c.189G>T (p.Glu63Asp)	WDR62 (E63D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 31040	NM_001083961.2(WDR62):c.193G>A (p.Val65Met)	WDR62 (V65M)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GPathogenic
Select item 1997770	NM_001083961.2(WDR62):c.197T>C (p.Leu66Pro)	WDR62 (L66P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1323767	NM_001083961.2(WDR62):c.198_201dup (p.Ile68fs)	WDR62 (I68fs)	Duplication (frameshift variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GPathogenic
Select item 497419	NM_001083961.2(WDR62):c.203T>C (p.Ile68Thr)	WDR62 (I68T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1176707	NM_001083961.2(WDR62):c.216C>T (p.Asn72=)	WDR62	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2914586	NM_001083961.2(WDR62):c.218dup (p.Ser73fs)	WDR62 (S73fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1952732	NM_001083961.2(WDR62):c.226C>G (p.Leu76Val)	WDR62 (L76V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 511154	NM_001083961.2(WDR62):c.231C>A (p.Thr77=)	WDR62	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 892162	NM_001083961.2(WDR62):c.241G>A (p.Gly81Ser)	WDR62 (G81S)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 2505558	NM_001083961.2(WDR62):c.242G>A (p.Gly81Asp)	WDR62 (G81D)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 1526085	NM_001083961.2(WDR62):c.250dup (p.His84fs)	WDR62 (H84fs)	Duplication (frameshift variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GPathogenic
Select item 328905	NM_001083961.2(WDR62):c.253G>A (p.Val85Met)	WDR62 (V85M)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations +3 more	GConflicting classifications of pathogenicity
Select item 2429172	NM_001083961.2(WDR62):c.269+1G>T	WDR62	Single nucleotide variant (splice donor variant)	Autosomal recessive primary microcephaly	GLikely pathogenic
Select item 1467578	NM_001083961.2(WDR62):c.269+6C>T	WDR62	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1920416	NM_001083961.2(WDR62):c.269+11A>G	WDR62	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 212602	NM_001083961.2(WDR62):c.269+12del	WDR62	Deletion (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 382897	NM_001083961.2(WDR62):c.269+19C>T	WDR62	Single nucleotide variant (intron variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations +2 more	GBenign/Likely benign
Select item 1207552	NM_001083961.2(WDR62):c.269+70G>A	WDR62	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215985	NM_001083961.2(WDR62):c.269+89A>T	WDR62	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193221	NM_001083961.2(WDR62):c.269+92T>C	WDR62	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200111	NM_001083961.2(WDR62):c.270-298A>G	WDR62	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191767	NM_001083961.2(WDR62):c.270-188T>C	WDR62	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235535	NM_001083961.2(WDR62):c.270-93T>C	WDR62	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1333216	NM_001083961.2(WDR62):c.270-15_287del	WDR62	Deletion (splice acceptor variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GLikely pathogenic
Select item 740387	NM_001083961.2(WDR62):c.270-9T>C	WDR62	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 892163	NM_001083961.2(WDR62):c.272G>A (p.Cys91Tyr)	WDR62 (C91Y)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 735828	NM_001083961.2(WDR62):c.303C>T (p.Asn101=)	WDR62	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 426471	NM_001083961.2(WDR62):c.303C>A (p.Asn101Lys)	WDR62 (N101K)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 725695	NM_001083961.2(WDR62):c.312G>C (p.Gln104His)	WDR62 (Q104H)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2578823	NM_001083961.2(WDR62):c.327C>T (p.Thr109=)	WDR62	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 892164	NM_001083961.2(WDR62):c.328G>A (p.Ala110Thr)	WDR62 (A110T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1030118	NM_001083961.2(WDR62):c.332G>C (p.Arg111Thr)	WDR62 (R111T)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GLikely pathogenic
Select item 160282	NM_001083961.2(WDR62):c.332+1G>A	WDR62	Single nucleotide variant (splice donor variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GPathogenic
Select item 1217078	NM_001083961.2(WDR62):c.332+40G>A	WDR62	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 160292	NM_001083961.2(WDR62):c.359C>A (p.Ser120Tyr)	WDR62 (S120Y)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GLikely pathogenic
Select item 31039	NM_001083961.2(WDR62):c.363del (p.Asp122fs)	WDR62 (D122fs)	Deletion (frameshift variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GPathogenic
Select item 961944	NM_001083961.2(WDR62):c.390+1G>T	WDR62	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 378857	NM_001083961.2(WDR62):c.390+7C>T	WDR62	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1946204	NM_001083961.2(WDR62):c.390+8G>A	WDR62	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1649234	NM_001083961.2(WDR62):c.390+13C>T	WDR62	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1653784	NM_001083961.2(WDR62):c.390+14G>A	WDR62	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201079	NM_001083961.2(WDR62):c.391-65C>T	WDR62	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978942	NM_001083961.2(WDR62):c.391-18C>T	WDR62	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986302	NM_001083961.2(WDR62):c.391-17G>A	WDR62	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670072	NM_001083961.2(WDR62):c.391-10C>T	WDR62	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3034819	NM_001083961.2(WDR62):c.391-6C>T	WDR62	Single nucleotide variant (intron variant)	WDR62-related disorder	GLikely benign
Select item 1630905	NM_001083961.2(WDR62):c.393T>C (p.Asn131=)	WDR62	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 212606	NM_001083961.2(WDR62):c.413G>A (p.Arg138His)	WDR62 (R138H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1936930	NM_001083961.2(WDR62):c.415A>G (p.Ile139Val)	WDR62 (I139V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1490860	NM_001083961.2(WDR62):c.420G>T (p.Trp140Cys)	WDR62 (W140C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1336501	NM_001083961.2(WDR62):c.423T>C (p.Asp141=)	WDR62	Single nucleotide variant (synonymous variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations +1 more	GConflicting classifications of pathogenicity
Select item 2889428	NM_001083961.2(WDR62):c.432G>A (p.Glu144=)	WDR62	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2286856	NM_001083961.2(WDR62):c.435G>T (p.Lys145Asn)	WDR62 (K145N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1598170	NM_001083961.2(WDR62):c.447G>A (p.Ala149=)	WDR62	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3190172	NM_001083961.2(WDR62):c.450G>C (p.Glu150Asp)	WDR62 (E150D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2438579	NM_001083961.2(WDR62):c.460C>T (p.His154Tyr)	WDR62 (H154Y)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance
Select item 282359	NM_001083961.2(WDR62):c.477G>A (p.Ala159=)	WDR62	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1030119	NM_001083961.2(WDR62):c.481G>A (p.Val161Met)	WDR62 (V161M)	Single nucleotide variant (missense variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	GUncertain significance

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