RHOQ[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 153532	GRCh38/hg38 2p21-16.3(chr2:46415109-48203207)x3	LOC129933708, LOC129933709 +104 more	Copy number gain	See cases	GUncertain significance
Select item 3314224	NM_012249.4(RHOQ):c.26T>A (p.Met9Lys)	RHOQ (M9K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623355	NM_012249.4(RHOQ):c.68C>T (p.Thr23Met)	LOC129933660, RHOQ (T23M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255596	NM_012249.4(RHOQ):c.155T>A (p.Val52Glu)	RHOQ (V52E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 154531	GRCh38/hg38 2p21(chr2:46573689-46732838)x3	CRIPT, LOC129933670 +8 more	Copy number gain	See cases	GBenign
Select item 3154089	NM_012249.4(RHOQ):c.215G>A (p.Arg72His)	RHOQ, RHOQ-AS1 (R72H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545725	NM_012249.4(RHOQ):c.400A>G (p.Arg134Gly)	RHOQ, RHOQ-AS1 (R134G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327980	NM_012249.4(RHOQ):c.427A>G (p.Ile143Val)	RHOQ, RHOQ-AS1 (I143V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245826	NM_012249.4(RHOQ):c.482T>C (p.Val161Ala)	PIGF, RHOQ (V161A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298975	NM_012249.4(RHOQ):c.560A>G (p.Lys187Arg)	PIGF, RHOQ (K187R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154090	NM_012249.4(RHOQ):c.563A>T (p.His188Leu)	PIGF, RHOQ (H188L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314226	NM_012249.4(RHOQ):c.614C>T (p.Thr205Met)	PIGF, RHOQ (T205M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212785	NM_002643.4(PIGF):c.656A>G (p.Asn219Ser)	PIGF, RHOQ (N219S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2209631	NM_002643.4(PIGF):c.654C>A (p.Asn218Lys)	PIGF, RHOQ (N218K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2510910	NM_002643.4(PIGF):c.619A>T (p.Ile207Leu)	PIGF, RHOQ (I207L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2510909	NM_002643.4(PIGF):c.618G>T (p.Trp206Cys)	PIGF, RHOQ (W206C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2307426	NM_002643.4(PIGF):c.589G>A (p.Val197Met)	PIGF, RHOQ (V197M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2425909	NC_000002.11:g.(?_46525051)_(46851366_?)dup	ATP6V1E2, CRIPT +4 more	Duplication	not provided	GUncertain significance
Select item 2422665	NC_000002.11:g.(?_38121051)_(47710088_?)dup	CAMKMT, CDKL4 +52 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 814243	GRCh37/hg19 2p21(chr2:46179259-47646894)x3	TTC7A, ATP6V1E2 +13 more	Copy number gain	not provided	GUncertain significance
Select item 562680	GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3	ABCG5, ABCG8 +100 more	Copy number gain	not provided	GPathogenic
Select item 562630	GRCh37/hg19 2p21(chr2:46557702-47744377)x3	CALM2, ATP6V1E2 +12 more	Copy number gain	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 429039	NC_000002.11:g.38121110_47669522inv	ATP6V1E2, GEMIN6 +52 more	Inversion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic

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Items: 32