ClinVar for Gene (Select 54329) - ClinVar

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Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3282460	NM_001146267.2(GPR85):c.305T>G (p.Val102Gly)	GPR85 (V102G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282459	NM_001146267.2(GPR85):c.448G>A (p.Val150Met)	GPR85 (V150M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101885	NM_001146267.2(GPR85):c.47C>T (p.Ser16Leu)	GPR85 (S16L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101884	NM_001146267.2(GPR85):c.206G>T (p.Arg69Ile)	GPR85 (R69I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062952	GRCh37/hg19 7q31.1(chr7:111340222-113515460)x3	BMT2, DOCK4 +5 more	Copy number gain	not specified	GUncertain significance
Select item 2685263	GRCh37/hg19 7q31.1(chr7:112627896-113134044)x1	GPR85	Copy number loss	not provided	GUncertain significance
Select item 2685262	GRCh37/hg19 7q31.1-31.2(chr7:108967155-116850770)x1	TES, TFEC +20 more	Copy number loss	not provided	GPathogenic
Select item 2664620	NM_001146267.2(GPR85):c.176T>A (p.Leu59Gln)	GPR85 (L59Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2664591	NM_001146267.2(GPR85):c.1071C>A (p.Cys357Ter)	GPR85 (C357*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2611572	NM_001146267.2(GPR85):c.191G>C (p.Cys64Ser)	GPR85 (C64S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512974	NM_001146267.2(GPR85):c.955G>A (p.Gly319Arg)	GPR85 (G319R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493263	NM_001146267.2(GPR85):c.497T>C (p.Ile166Thr)	GPR85 (I166T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485487	NM_001146267.2(GPR85):c.31A>G (p.Ile11Val)	GPR85 (I11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465029	NM_001146267.2(GPR85):c.403T>G (p.Phe135Val)	GPR85 (F135V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393640	NM_001146267.2(GPR85):c.361T>A (p.Leu121Ile)	GPR85 (L121I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306373	NM_001146267.2(GPR85):c.799G>A (p.Gly267Ser)	GPR85 (G267S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292993	NM_001146267.2(GPR85):c.53T>C (p.Leu18Pro)	GPR85 (L18P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280588	NM_001146267.2(GPR85):c.907G>A (p.Val303Met)	GPR85 (V303M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275552	NM_001146267.2(GPR85):c.163C>G (p.Pro55Ala)	GPR85 (P55A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261722	NM_001146267.2(GPR85):c.343A>G (p.Ile115Val)	GPR85 (I115V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260238	NM_001146267.2(GPR85):c.370G>A (p.Ala124Thr)	GPR85 (A124T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250397	NM_001146267.2(GPR85):c.380G>A (p.Arg127His)	GPR85 (R127H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233588	NM_001146267.2(GPR85):c.592A>T (p.Thr198Ser)	GPR85 (T198S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219393	NM_001146267.2(GPR85):c.530G>A (p.Arg177His)	GPR85 (R177H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205152	NM_001146267.2(GPR85):c.989C>T (p.Ala330Val)	GPR85 (A330V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1706493	GRCh37/hg19 7q31.1(chr7:112520887-113741230)x3	PPP1R3A, BMT2 +2 more	Copy number gain	See cases	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527383	GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489)	PRRT4, PTPRZ1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1527380	GRCh37/hg19 7q22.1-31.31(chr7:100676872-119156160)	ALKBH4, ANKRD7 +95 more	Copy number loss	not specified	GPathogenic
Select item 1340162	GRCh37/hg19 7q31.1(chr7:111609961-113375421)x3	BMT2, DOCK4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1339974	GRCh37/hg19 7q31.1(chr7:112621506-113125221)x3	GPR85	Copy number gain	not provided	GUncertain significance
Select item 815018	GRCh37/hg19 7q31.1(chr7:109594999-113885203)x3	LSMEM1, BMT2 +9 more	Copy number gain	not provided	GLikely pathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 815014	GRCh37/hg19 7q22.3-31.32(chr7:106617406-123217914)x1	TMEM168, LAMB4 +59 more	Copy number loss	not provided	GPathogenic
Select item 768195	NM_001146267.2(GPR85):c.630C>T (p.His210=)	GPR85	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 689016	GRCh37/hg19 7q31.1(chr7:109939104-113649529)x1	BMT2, DOCK4 +8 more	Copy number loss	not provided	GUncertain significance
Select item 688097	GRCh37/hg19 7q31.1(chr7:112661101-113147465)x1	GPR85	Copy number loss	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 686057	GRCh37/hg19 7q31.1-31.31(chr7:107410314-117825549)x1	ASZ1, BMT2 +34 more	Copy number loss	not provided	GPathogenic
Select item 635931	Single allele	BMT2, DOCK4 +7 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 444856	GRCh37/hg19 7q31.1(chr7:112625029-113125338)x1	GPR85	Copy number loss	not provided	GUncertain significance
Select item 443703	GRCh37/hg19 7q31.1(chr7:112621516-113139867)x3	GPR85	Copy number gain	See cases	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 441861	GRCh37/hg19 7q31.1-31.2(chr7:111642645-115770275)x1	BMT2, DOCK4 +9 more	Copy number loss	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 253455	GRCh37/hg19 7q31.1-32.1(chr7:111613396-127897316)x1	AASS, RNU2-1 +57 more	Copy number loss	See cases	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 155283	GRCh38/hg38 7q31.1(chr7:112984974-113485283)x1	GPR85, HRAT17 +2 more	Copy number loss	See cases	GUncertain significance
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 54