9077[Gene ID] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	LOC129388541, LOC129388542 +570 more	Copy number gain	See cases	GPathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	AK4, ALG6 +339 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	LOC132088736, LOC132088737 +557 more	Copy number loss	See cases	GPathogenic
Select item 144714	GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1	AK4, ALG6 +275 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	LOC126805749, LOC126805750 +331 more	Copy number loss	See cases	GPathogenic
Select item 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	LOC129930732, LOC129930733 +269 more	Copy number loss	See cases	GPathogenic
Select item 57090	GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1	AK4, ALG6 +252 more	Copy number loss	See cases	GPathogenic
Select item 154385	GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3	TYW3, UBE2U +209 more	Copy number gain	See cases	GPathogenic
Select item 155062	GRCh38/hg38 1p31.3-31.1(chr1:66865125-77123381)x1	ACADM, ANKRD13C +165 more	Copy number loss	See cases	GPathogenic
Select item 1707456	Single allele	ACADM, AK5 +188 more	Duplication	not specified	GUncertain significance
Select item 59972	GRCh38/hg38 1p31.3-31.1(chr1:67239704-71924806)x1	ANKRD13C, ANKRD13C-DT +80 more	Copy number loss	See cases	GPathogenic
Select item 2550059	NM_004675.5(DIRAS3):c.650A>G (p.Asn217Ser)	DIRAS3, GNG12-AS1 (N217S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603607	NM_004675.5(DIRAS3):c.593A>G (p.Tyr198Cys)	DIRAS3, GNG12-AS1 (Y198C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245171	NM_004675.5(DIRAS3):c.547A>G (p.Lys183Glu)	DIRAS3, GNG12-AS1 (K183E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082542	NM_004675.5(DIRAS3):c.520A>C (p.Asn174His)	DIRAS3, GNG12-AS1 (N174H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595912	NM_004675.5(DIRAS3):c.513G>A (p.Met171Ile)	DIRAS3, GNG12-AS1 (M171I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272129	NM_004675.5(DIRAS3):c.506G>A (p.Cys169Tyr)	DIRAS3, GNG12-AS1 (C169Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2242036	NM_004675.5(DIRAS3):c.385G>A (p.Ala129Thr)	DIRAS3, GNG12-AS1 (A129T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272134	NM_004675.5(DIRAS3):c.356C>G (p.Thr119Ser)	DIRAS3, GNG12-AS1 (T119S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272132	NM_004675.5(DIRAS3):c.305A>G (p.Gln102Arg)	DIRAS3, GNG12-AS1 (Q102R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241036	NM_004675.5(DIRAS3):c.296G>T (p.Arg99Leu)	DIRAS3, GNG12-AS1 (R99L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3032282	NM_004675.5(DIRAS3):c.207C>T (p.Thr69=)	DIRAS3, GNG12-AS1	Single nucleotide variant (synonymous variant)	DIRAS3-related disorder	GLikely benign
Select item 2536683	NM_004675.5(DIRAS3):c.142G>A (p.Val48Met)	DIRAS3, GNG12-AS1 (V48M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263012	NM_004675.5(DIRAS3):c.91C>T (p.Pro31Ser)	DIRAS3, GNG12-AS1 (P31S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3272135	NM_004675.5(DIRAS3):c.79C>G (p.Arg27Gly)	DIRAS3, GNG12-AS1 (R27G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272133	NM_004675.5(DIRAS3):c.52C>T (p.Arg18Trp)	DIRAS3, GNG12-AS1 (R18W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216535	NM_004675.5(DIRAS3):c.35A>G (p.Lys12Arg)	DIRAS3, GNG12-AS1 (K12R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272131	NM_004675.5(DIRAS3):c.10G>T (p.Ala4Ser)	DIRAS3, GNG12-AS1 (A4S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 1527048	GRCh37/hg19 1p31.3-31.2(chr1:65125111-69186543)	SGIP1, SLC35D1 +23 more	Copy number gain	not specified	GUncertain significance
Select item 814091	GRCh37/hg19 1p31.3-31.2(chr1:68362723-69625048)x1	DEPDC1, DIRAS3 +2 more	Copy number loss	not provided	GUncertain significance
Select item 814090	GRCh37/hg19 1p31.3(chr1:67866958-68874096)x3	SERBP1, GADD45A +3 more	Copy number gain	not provided	GUncertain significance
Select item 686749	GRCh37/hg19 1p31.3-31.1(chr1:66868168-77106425)x1	ACADM, ANKRD13C +39 more	Copy number loss	not provided	GPathogenic
Select item 685733	GRCh37/hg19 1p31.3-22.3(chr1:67851233-86101340)x1	ACADM, ADGRL2 +65 more	Copy number loss	not provided	GPathogenic
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
Select item 666427	Single allele	ROR1, RPE65 +53 more	Deletion	Intellectual disability, severe	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	NKAIN1, PLA2G2E +783 more	Copy number gain	Global developmental delay +1 more	GUncertain significance
Select item 565102	GRCh37/hg19 1p31.3-31.1(chr1:62434799-71656180)x3	AK4, ALG6 +46 more	Copy number gain	not provided	GPathogenic
Select item 442708	GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	ACADM, ADGRL2 +94 more	Copy number loss	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
Select item 441647	GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1	ACADM, ADGRL4 +78 more	Copy number loss	See cases	GPathogenic

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Items: 42