ClinVar for Gene (Select 55142) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3104320	NM_018097.3(HAUS2):c.572G>A (p.Arg191His)	HAUS2 (R160H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104318	NM_018097.3(HAUS2):c.232G>A (p.Asp78Asn)	HAUS2 (D47N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3104317	NM_018097.3(HAUS2):c.205C>T (p.Leu69Phe)	HAUS2 (L38F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3104316	NM_018097.3(HAUS2):c.201T>G (p.Ile67Met)	HAUS2 (I67M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 2684756	GRCh37/hg19 15q15.1-15.2(chr15:42629809-43042062)x3	CAPN3, CDAN1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 2605772	NM_018097.3(HAUS2):c.89A>G (p.Asn30Ser)	HAUS2, LOC130056925 (N30S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530771	NM_018097.3(HAUS2):c.305T>C (p.Val102Ala)	HAUS2 (V8A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2508282	NM_018097.3(HAUS2):c.285G>T (p.Met95Ile)	HAUS2 (M64I +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2488670	NM_018097.3(HAUS2):c.34G>A (p.Ala12Thr)	HAUS2, LOC130056925 (A12T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483385	NM_018097.3(HAUS2):c.99G>C (p.Met33Ile)	HAUS2 (M33I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2477683	NM_018097.3(HAUS2):c.481G>A (p.Ala161Thr)	HAUS2 (A161T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385325	NM_018097.3(HAUS2):c.567G>C (p.Lys189Asn)	HAUS2 (K58N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384125	NM_018097.3(HAUS2):c.248T>C (p.Phe83Ser)	HAUS2 (F83S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2354540	NM_018097.3(HAUS2):c.200T>C (p.Ile67Thr)	HAUS2 (I36T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2256872	NM_018097.3(HAUS2):c.571C>T (p.Arg191Cys)	HAUS2 (R97C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526447	GRCh37/hg19 15q15.2-21.2(chr15:42850434-49592633)	BLOC1S6, C15orf48 +61 more	Copy number loss	not specified	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442327	GRCh37/hg19 15q15.1-15.2(chr15:42671557-42928900)x1	CAPN3, HAUS2 +4 more	Copy number loss	See cases	GUncertain significance
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AFG2B +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 more	Copy number gain	See cases	GPathogenic
Select item 148856	GRCh38/hg38 15q15.2-15.3(chr15:42566761-43847106)x1	ADAL, CATSPER2 +69 more	Copy number loss	See cases	GLikely pathogenic

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Links from Gene

Items: 27