ClinVar for Gene (Select 375196) - ClinVar - NCBI

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Links from Gene

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3129272	NM_001145451.5(ARHGEF33):c.2039C>G (p.Ala680Gly)	ARHGEF33, LOC375196 (A680G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129271	NM_001145451.5(ARHGEF33):c.1700C>T (p.Ala567Val)	ARHGEF33, LOC375196 (A567V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129270	NM_001145451.5(ARHGEF33):c.1552G>C (p.Val518Leu)	ARHGEF33, LOC375196 (V518L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558968	NM_001145451.5(ARHGEF33):c.1726C>T (p.Pro576Ser)	ARHGEF33, LOC375196 (P576S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494476	NM_001145451.5(ARHGEF33):c.2034G>C (p.Lys678Asn)	ARHGEF33, LOC375196 (K678N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401251	NM_001145451.5(ARHGEF33):c.1621C>G (p.Leu541Val)	ARHGEF33, LOC375196 (L541V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338778	NM_001145451.5(ARHGEF33):c.1587G>C (p.Glu529Asp)	ARHGEF33, LOC375196 (E529D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334748	NM_001145451.5(ARHGEF33):c.1628G>A (p.Gly543Asp)	ARHGEF33, LOC375196 (G543D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319396	NM_001145451.5(ARHGEF33):c.1825G>A (p.Val609Met)	ARHGEF33, LOC375196 (V609M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291508	NM_001145451.5(ARHGEF33):c.1631G>A (p.Arg544Lys)	ARHGEF33, LOC375196 (R544K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247891	NM_001145451.5(ARHGEF33):c.1962C>G (p.Ile654Met)	ARHGEF33, LOC375196 (I654M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217443	NM_001145451.5(ARHGEF33):c.1934C>T (p.Pro645Leu)	ARHGEF33, LOC375196 (P645L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 150617	GRCh38/hg38 2p22.2-21(chr2:37000557-41954686)x1	ARHGEF33, ATL2 +154 more	Copy number loss	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic