63948[Gene ID] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 3272428	NM_033067.3(DMRTB1):c.145A>T (p.Ile49Phe)	DMRTB1 (I49F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532879	NM_033067.3(DMRTB1):c.150G>A (p.Met50Ile)	DMRTB1 (M50I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230766	NM_033067.3(DMRTB1):c.152C>T (p.Ala51Val)	DMRTB1 (A51V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272429	NM_033067.3(DMRTB1):c.167T>G (p.Leu56Arg)	DMRTB1 (L56R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490849	NM_033067.3(DMRTB1):c.196G>A (p.Glu66Lys)	DMRTB1 (E66K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083158	NM_033067.3(DMRTB1):c.224A>G (p.Lys75Arg)	DMRTB1 (K75R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544667	NM_033067.3(DMRTB1):c.235G>A (p.Gly79Arg)	DMRTB1 (G79R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390726	NM_033067.3(DMRTB1):c.250G>C (p.Ala84Pro)	DMRTB1 (A84P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390727	NM_033067.3(DMRTB1):c.256G>C (p.Ala86Pro)	DMRTB1 (A86P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390728	NM_033067.3(DMRTB1):c.262G>C (p.Val88Leu)	DMRTB1 (V88L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259873	NM_033067.3(DMRTB1):c.262G>A (p.Val88Ile)	DMRTB1 (V88I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391907	NM_033067.3(DMRTB1):c.268G>C (p.Val90Leu)	DMRTB1 (V90L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391908	NM_033067.3(DMRTB1):c.269T>C (p.Val90Ala)	DMRTB1 (V90A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3083159	NM_033067.3(DMRTB1):c.282C>A (p.Ser94Arg)	DMRTB1 (S94R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389261	NM_033067.3(DMRTB1):c.286C>T (p.Arg96Cys)	DMRTB1 (R96C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2599434	NM_033067.3(DMRTB1):c.313G>A (p.Gly105Arg)	DMRTB1 (G105R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490770	NM_033067.3(DMRTB1):c.364C>A (p.Gln122Lys)	DMRTB1 (Q122K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390431	NM_033067.3(DMRTB1):c.364C>G (p.Gln122Glu)	DMRTB1 (Q122E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334855	NM_033067.3(DMRTB1):c.384C>A (p.Asn128Lys)	DMRTB1 (N128K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272431	NM_033067.3(DMRTB1):c.409G>A (p.Val137Ile)	DMRTB1 (V137I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254347	NM_033067.3(DMRTB1):c.416G>A (p.Gly139Asp)	DMRTB1 (G139D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325698	NM_033067.3(DMRTB1):c.521C>T (p.Pro174Leu)	DMRTB1 (P174L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355735	NM_033067.3(DMRTB1):c.533G>A (p.Arg178His)	DMRTB1 (R178H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272430	NM_033067.3(DMRTB1):c.557G>A (p.Gly186Asp)	DMRTB1 (G186D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253532	NM_033067.3(DMRTB1):c.599C>T (p.Pro200Leu)	DMRTB1 (P200L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083161	NM_033067.3(DMRTB1):c.629G>T (p.Gly210Val)	DMRTB1 (G210V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083160	NM_033067.3(DMRTB1):c.629G>A (p.Gly210Asp)	DMRTB1 (G210D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083162	NM_033067.3(DMRTB1):c.679G>A (p.Ala227Thr)	DMRTB1 (A227T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638825	NM_033067.3(DMRTB1):c.694C>T (p.Pro232Ser)	DMRTB1 (P232S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3083163	NM_033067.3(DMRTB1):c.697C>G (p.Leu233Val)	DMRTB1 (L233V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205606	NM_033067.3(DMRTB1):c.724C>G (p.Arg242Gly)	DMRTB1 (R242G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272392	NM_033067.3(DMRTB1):c.782G>T (p.Ser261Ile)	DMRTB1 (S261I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560325	NM_033067.3(DMRTB1):c.815C>T (p.Pro272Leu)	DMRTB1 (P272L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083164	NM_033067.3(DMRTB1):c.827C>T (p.Pro276Leu)	DMRTB1 (P276L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083165	NM_033067.3(DMRTB1):c.890C>T (p.Pro297Leu)	DMRTB1 (P297L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305019	NM_033067.3(DMRTB1):c.932T>C (p.Val311Ala)	DMRTB1 (V311A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218854	NM_033067.3(DMRTB1):c.962A>T (p.Asp321Val)	DMRTB1 (D321V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521175	NM_033067.3(DMRTB1):c.986C>T (p.Ser329Leu)	DMRTB1 (S329L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296739	NM_033067.3(DMRTB1):c.1016A>G (p.Glu339Gly)	DMRTB1 (E339G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
Select item 1047872	GRCh37/hg19 1p32.3-32.2(chr1:51941877-56688514)	CYB5RL, EPS15 +49 more	Copy number loss	Abnormality of the kidney +1 more	GPathogenic
Select item 981205	GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1	L1TD1, LDLRAD1 +67 more	Copy number loss	Chromosome 1p32-p31 deletion syndrome	GPathogenic
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 443438	GRCh37/hg19 1p32.3(chr1:53370010-54017544)x3	CPT2, CZIB +8 more	Copy number gain	See cases	GUncertain significance
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
Select item 394094	GRCh37/hg19 1p32.3(chr1:51729573-55164001)x1	LRP8, LRRC42 +42 more	Copy number loss	See cases	GPathogenic

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Items: 50