ClinVar for Gene (Select 10692) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315429	NM_006583.5(RRH):c.80T>C (p.Ile27Thr)	RRH (I27T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315428	NM_006583.5(RRH):c.668A>G (p.Asp223Gly)	RRH (D223G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315427	NM_006583.5(RRH):c.404G>A (p.Arg135Lys)	RRH (R135K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246704	NC_000004.11:g.(?_110481494)_(111554154_?)dup	CASP6, CFI +9 more	Duplication	not provided	GUncertain significance
Select item 3156446	NM_006583.5(RRH):c.920C>A (p.Ala307Asp)	RRH (A307D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156445	NM_006583.5(RRH):c.866A>G (p.Tyr289Cys)	RRH (Y289C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156444	NM_006583.5(RRH):c.823A>G (p.Met275Val)	RRH (M275V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156443	NM_006583.5(RRH):c.511A>G (p.Thr171Ala)	RRH (T171A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156442	NM_006583.5(RRH):c.49G>A (p.Gly17Ser)	RRH (G17S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156441	NM_006583.5(RRH):c.281G>T (p.Gly94Val)	RRH (G94V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156440	NM_006583.5(RRH):c.241A>C (p.Met81Leu)	RRH (M81L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	CAMK2D, GIMD1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2599027	NM_006583.5(RRH):c.539G>A (p.Arg180Lys)	RRH (R180K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548814	NM_006583.5(RRH):c.253T>G (p.Ser85Ala)	RRH (S85A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526629	NM_006583.5(RRH):c.395T>G (p.Val132Gly)	RRH (V132G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511940	NM_006583.5(RRH):c.584C>T (p.Ala195Val)	RRH (A195V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2462844	NM_006583.5(RRH):c.452A>G (p.Asn151Ser)	RRH (N151S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376360	NM_006583.5(RRH):c.731T>G (p.Ile244Ser)	RRH (I244S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286608	NM_006583.5(RRH):c.394G>A (p.Val132Ile)	RRH (V132I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2274414	NM_006583.5(RRH):c.440G>C (p.Gly147Ala)	RRH (G147A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239743	NM_006583.5(RRH):c.949A>G (p.Met317Val)	RRH (M317V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234817	NM_006583.5(RRH):c.32A>G (p.Asp11Gly)	RRH (D11G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224452	NM_006583.5(RRH):c.857C>G (p.Ser286Cys)	RRH (S286C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 738236	NM_006583.5(RRH):c.423C>A (p.Tyr141Ter)	RRH (Y141*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 58034	GRCh38/hg38 4q24-25(chr4:105778347-110206873)x3	AIMP1, CASP6 +106 more	Copy number gain	See cases	GPathogenic
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 57893	GRCh38/hg38 4q25(chr4:109800241-109990141)x3	CFI, EGF +12 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 35