30238[HGNC] - ClinVar

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Items: 75

	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 756682	NM_001002292.4(WLS):c.1554del (p.Phe518fs)	GNG12-AS1, WLS (F518fs)	Deletion (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1098570	NM_024911.7(WLS):c.1606C>T (p.Arg536Cys)	WLS, GNG12-AS1 (R445C +1 more)	Single nucleotide variant (missense variant +1 more)	WLS syndrome	GLikely pathogenic
Select item 1098569	NM_024911.7(WLS):c.1592T>C (p.Ile531Thr)	GNG12-AS1, WLS (I440T +1 more)	Single nucleotide variant (missense variant +1 more)	WLS syndrome	GLikely pathogenic
Select item 2389247	NM_024911.7(WLS):c.1514A>G (p.Asn505Ser)	GNG12-AS1, WLS (N414S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298525	NM_024911.7(WLS):c.1501G>C (p.Glu501Gln)	GNG12-AS1, WLS (E501Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225415	NM_024911.7(WLS):c.1496A>G (p.Tyr499Cys)	GNG12-AS1, WLS (Y499C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400976	NM_024911.7(WLS):c.1467G>A (p.Met489Ile)	GNG12-AS1, WLS (M398I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302509	NM_024911.7(WLS):c.1450T>C (p.Tyr484His)	GNG12-AS1, WLS (Y482H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1098568	NM_024911.7(WLS):c.1433A>G (p.Tyr478Cys)	GNG12-AS1, WLS (Y387C +2 more)	Single nucleotide variant (missense variant)	WLS syndrome	GPathogenic
Select item 2620005	NM_024911.7(WLS):c.1414G>T (p.Ala472Ser)	GNG12-AS1, WLS (A381S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367088	NM_024911.7(WLS):c.1367C>T (p.Thr456Met)	GNG12-AS1, WLS (T365M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3029388	NM_024911.7(WLS):c.1363-3279C>A	GNG12-AS1, WLS	Single nucleotide variant (intron variant)	WLS-related disorder	GUncertain significance
Select item 2284982	NM_024911.7(WLS):c.1354G>A (p.Val452Ile)	GNG12-AS1, WLS (V452I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190604	NM_024911.7(WLS):c.1298A>G (p.Lys433Arg)	GNG12-AS1, WLS (K342R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602250	NM_024911.7(WLS):c.1214G>A (p.Arg405Gln)	GNG12-AS1, WLS (R403Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333141	NM_024911.7(WLS):c.1213C>T (p.Arg405Trp)	GNG12-AS1, WLS (R403W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1098567	NM_024911.7(WLS):c.1175A>G (p.Tyr392Cys)	GNG12-AS1, WLS (Y301C +2 more)	Single nucleotide variant (missense variant)	WLS syndrome	GPathogenic
Select item 2274078	NM_024911.7(WLS):c.1168T>G (p.Cys390Gly)	GNG12-AS1, WLS (C390G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333147	NM_024911.7(WLS):c.1163G>C (p.Cys388Ser)	GNG12-AS1, WLS (C386S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333143	NM_024911.7(WLS):c.1150G>A (p.Val384Met)	GNG12-AS1, WLS (V382M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526330	NM_024911.7(WLS):c.961G>A (p.Glu321Lys)	GNG12-AS1, WLS (E319K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2431926	NM_024911.7(WLS):c.919T>C (p.Phe307Leu)	GNG12-AS1, WLS (F216L +2 more)	Single nucleotide variant (missense variant)	Zaki syndrome	GUncertain significance
Select item 3190611	NM_024911.7(WLS):c.916A>G (p.Ile306Val)	GNG12-AS1, WLS (I304V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190610	NM_024911.7(WLS):c.802A>C (p.Lys268Gln)	GNG12-AS1, WLS (K266Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283970	NM_024911.7(WLS):c.725C>T (p.Thr242Met)	GNG12-AS1, WLS (T151M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491656	NM_024911.7(WLS):c.718T>C (p.Phe240Leu)	GNG12-AS1, WLS (F149L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2584858	NM_024911.7(WLS):c.702G>C (p.Trp234Cys)	GNG12-AS1, WLS (W143C +2 more)	Single nucleotide variant (missense variant)	Zaki syndrome	GUncertain significance
Select item 2318268	NM_024911.7(WLS):c.659G>A (p.Arg220Gln)	GNG12-AS1, WLS (R129Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557499	NM_024911.7(WLS):c.605C>T (p.Pro202Leu)	GNG12-AS1, WLS (P200L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190609	NM_024911.7(WLS):c.598C>T (p.Arg200Trp)	GNG12-AS1, WLS (R109W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470900	NM_024911.7(WLS):c.576T>A (p.His192Gln)	GNG12-AS1, WLS (H192Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190608	NM_024911.7(WLS):c.574C>T (p.His192Tyr)	GNG12-AS1, WLS (H192Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312924	NM_024911.7(WLS):c.554T>C (p.Met185Thr)	GNG12-AS1, WLS (M185T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333145	NM_024911.7(WLS):c.508C>T (p.Pro170Ser)	GNG12-AS1, WLS (P79S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053025	NM_024911.7(WLS):c.505-10C>A	GNG12-AS1, WLS	Single nucleotide variant (intron variant)	WLS-related disorder	GLikely benign
Select item 3333144	NM_024911.7(WLS):c.453G>C (p.Met151Ile)	GNG12-AS1, WLS (M60I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190607	NM_024911.7(WLS):c.439G>A (p.Glu147Lys)	GNG12-AS1, WLS (E145K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2585666	NM_024911.7(WLS):c.432G>A (p.Ala144=)	GNG12-AS1, WLS	Single nucleotide variant (synonymous variant)	Zaki syndrome	GBenign
Select item 2234177	NM_024911.7(WLS):c.430G>A (p.Ala144Thr)	GNG12-AS1, WLS (A142T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190606	NM_024911.7(WLS):c.403G>T (p.Asp135Tyr)	GNG12-AS1, WLS (D133Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296235	NM_024911.7(WLS):c.401T>C (p.Met134Thr)	GNG12-AS1, WLS (M43T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067699	NM_024911.7(WLS):c.291C>T (p.Pro97=)	GNG12-AS1, WLS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3190605	NM_024911.7(WLS):c.254T>C (p.Ile85Thr)	GNG12-AS1, WLS (I83T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593412	NM_024911.7(WLS):c.227A>G (p.Asp76Gly)	GNG12-AS1, WLS (D74G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3030845	NM_024911.7(WLS):c.138_169dup (p.His57delinsArgArgTer)	GNG12-AS1, WLS	Duplication (nonsense +1 more)	WLS-related disorder	GUncertain significance
Select item 2280025	NM_024911.7(WLS):c.161G>A (p.Arg54His)	GNG12-AS1, WLS (R52H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333142	NM_024911.7(WLS):c.122C>T (p.Thr41Met)	GNG12-AS1, WLS (T41M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511499	NM_024911.7(WLS):c.104T>C (p.Ile35Thr)	WLS (I35T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333146	NM_024911.7(WLS):c.98G>C (p.Gly33Ala)	WLS (G33A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291551	NM_024911.7(WLS):c.25A>G (p.Met9Val)	WLS (M9V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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: 75