ClinVar for Gene (Select 5074) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3208961	NM_002583.4(PAWR):c.424C>T (p.Pro142Ser)	LOC130008328, PAWR (P142S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208960	NM_002583.4(PAWR):c.331G>A (p.Glu111Lys)	LOC130008328, PAWR (E111K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208959	NM_002583.4(PAWR):c.299G>A (p.Arg100Gln)	LOC130008328, PAWR (R100Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208958	NM_002583.4(PAWR):c.185C>G (p.Ala62Gly)	LOC130008328, PAWR +1 more (A62G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3208957	NM_002583.4(PAWR):c.148G>A (p.Ala50Thr)	LOC130008328, PAWR +1 more (A50T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3063254	GRCh37/hg19 12q21.1-21.31(chr12:73466055-82398026)x1	ACSS3, ATXN7L3B +23 more	Copy number loss	not specified	GUncertain significance
Select item 3063243	GRCh37/hg19 12q21.1-21.33(chr12:74887087-90469800)x1	ACSS3, ALX1 +43 more	Copy number loss	not specified	GPathogenic
Select item 2541918	NM_002583.4(PAWR):c.371A>T (p.Gln124Leu)	LOC130008328, PAWR (Q124L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378772	NM_002583.4(PAWR):c.263G>A (p.Gly88Asp)	LOC130008328, PAWR (G88D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362428	NM_002583.4(PAWR):c.566G>A (p.Arg189Gln)	PAWR (R189Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357476	NM_002583.4(PAWR):c.605A>C (p.Glu202Ala)	PAWR (E202A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345689	NM_002583.4(PAWR):c.61G>C (p.Glu21Gln)	LOC130008328, PAWR +1 more (E21Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325073	NM_002583.4(PAWR):c.709G>T (p.Val237Phe)	PAWR (V237F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317321	NM_002583.4(PAWR):c.382G>A (p.Glu128Lys)	LOC130008328, PAWR (E128K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298651	NM_002583.4(PAWR):c.191C>T (p.Ala64Val)	LOC130008328, PAWR +1 more (A64V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276518	NM_002583.4(PAWR):c.5C>T (p.Ala2Val)	PAWR, PPP1R12A-AS2 (A2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218940	NM_002583.4(PAWR):c.349G>A (p.Ala117Thr)	LOC130008328, PAWR (A117T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208318	NM_002583.4(PAWR):c.334C>A (p.Pro112Thr)	LOC130008328, PAWR (P112T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 815539	GRCh37/hg19 12q21.2-21.31(chr12:79302790-82128250)x1	OTOGL, ACSS3 +8 more	Copy number loss	not provided	GUncertain significance
Select item 779530	NM_002583.4(PAWR):c.1005G>T (p.Val335=)	PAWR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687328	GRCh37/hg19 12q21.2-22(chr12:77737623-94330526)x1	ACSS3, ALX1 +46 more	Copy number loss	not provided	GPathogenic
Select item 687127	GRCh37/hg19 12q21.2(chr12:79732756-80116407)x1	PAWR, SYT1	Copy number loss	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	ACSS3, ALX1 +287 more	Copy number loss	See cases	GPathogenic
Select item 152482	GRCh38/hg38 12q21.2-21.31(chr12:76566873-82021089)x1	ACSS3, CSRP2 +69 more	Copy number loss	See cases	GLikely pathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 149118	GRCh38/hg38 12q21.2-21.31(chr12:79555742-79970429)x1	LOC112163633, LOC130008328 +5 more	Copy number loss	See cases	GUncertain significance
Select item 59816	GRCh38/hg38 12q21.2-21.31(chr12:77564757-85370822)x3	ACSS3, ALX1 +66 more	Copy number gain	See cases	GPathogenic
Select item 57584	GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1	ACSS3, ATXN7L3B +164 more	Copy number loss	See cases	GPathogenic
Select item 57208	GRCh38/hg38 12q21.2-21.31(chr12:75683698-80195649)x1	BBS10, CSRP2 +77 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 32