ADGRF4[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146275	GRCh38/hg38 6p21.1-12.3(chr6:44985760-47986838)x3	ADGRF1, ADGRF2 +78 more	Copy number gain	See cases	GLikely pathogenic
Select item 149301	GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1	GSTA3, GSTA4 +228 more	Copy number loss	See cases	GPathogenic
Select item 153225	GRCh38/hg38 6p12.3(chr6:47191779-51427306)x1	ADGRF2, ADGRF4 +64 more	Copy number loss	See cases	GLikely pathogenic
Select item 2220653	NM_153838.5(ADGRF4):c.76T>A (p.Ser26Thr)	ADGRF4 (S26T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085651	NM_153838.5(ADGRF4):c.157G>A (p.Glu53Lys)	ADGRF4 (E53K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346662	NM_153838.5(ADGRF4):c.161G>A (p.Gly54Glu)	ADGRF4 (G54E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253802	NM_153838.5(ADGRF4):c.220A>G (p.Ile74Val)	ADGRF4 (I74V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085697	NM_153838.5(ADGRF4):c.221T>C (p.Ile74Thr)	ADGRF4 (I74T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085701	NM_153838.5(ADGRF4):c.305C>T (p.Ser102Leu)	ADGRF4 (S102L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212117	NM_153838.5(ADGRF4):c.320G>A (p.Arg107His)	ADGRF4 (R107H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085709	NM_153838.5(ADGRF4):c.406C>T (p.Arg136Cys)	ADGRF4 (R136C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085712	NM_153838.5(ADGRF4):c.407G>A (p.Arg136His)	ADGRF4 (R136H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379813	NM_153838.5(ADGRF4):c.494A>G (p.Glu165Gly)	ADGRF4 (E165G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085719	NM_153838.5(ADGRF4):c.524C>A (p.Ser175Tyr)	ADGRF4 (S175Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085721	NM_153838.5(ADGRF4):c.539G>A (p.Arg180Gln)	ADGRF4 (R180Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2356711	NM_153838.5(ADGRF4):c.543G>C (p.Glu181Asp)	ADGRF4 (E181D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247885	NM_153838.5(ADGRF4):c.557A>G (p.Tyr186Cys)	ADGRF4 (Y186C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614845	NM_153838.5(ADGRF4):c.573C>A (p.Asn191Lys)	ADGRF4 (N191K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289248	NM_153838.5(ADGRF4):c.604T>C (p.Trp202Arg)	ADGRF4 (W202R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491702	NM_153838.5(ADGRF4):c.671A>T (p.Gln224Leu)	ADGRF4 (Q224L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533520	NM_153838.5(ADGRF4):c.744C>A (p.Asn248Lys)	ADGRF4 (N248K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520973	NM_153838.5(ADGRF4):c.758A>C (p.Glu253Ala)	ADGRF4 (E253A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085756	NM_153838.5(ADGRF4):c.848T>C (p.Leu283Pro)	ADGRF4 (L283P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487699	NM_153838.5(ADGRF4):c.852G>T (p.Trp284Cys)	ADGRF4 (W284C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367866	NM_153838.5(ADGRF4):c.940A>G (p.Arg314Gly)	ADGRF4 (R314G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085615	NM_153838.5(ADGRF4):c.1016T>C (p.Ile339Thr)	ADGRF4 (I339T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408584	NM_153838.5(ADGRF4):c.1019A>G (p.Asn340Ser)	ADGRF4 (N340S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615164	NM_153838.5(ADGRF4):c.1027C>T (p.Arg343Cys)	ADGRF4 (R343C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355644	NM_153838.5(ADGRF4):c.1028G>A (p.Arg343His)	ADGRF4 (R343H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085625	NM_153838.5(ADGRF4):c.1070G>A (p.Arg357Lys)	ADGRF4 (R357K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391946	NM_153838.5(ADGRF4):c.1130G>A (p.Arg377His)	ADGRF4 (R377H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275257	NM_153838.5(ADGRF4):c.1135A>C (p.Asn379His)	ADGRF4 (N379H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225150	NM_153838.5(ADGRF4):c.1184C>T (p.Ser395Leu)	ADGRF4 (S395L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390882	NM_153838.5(ADGRF4):c.1217G>A (p.Cys406Tyr)	ADGRF4 (C406Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085640	NM_153838.5(ADGRF4):c.1249G>T (p.Val417Phe)	ADGRF4 (V417F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213386	NM_153838.5(ADGRF4):c.1292T>C (p.Val431Ala)	ADGRF4 (V431A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 92032	NM_153838.5(ADGRF4):c.1423G>T (p.Ala475Ser)	ADGRF4 (A475S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3085644	NM_153838.5(ADGRF4):c.1468T>C (p.Trp490Arg)	ADGRF4 (W490R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355414	NM_153838.5(ADGRF4):c.1520G>A (p.Arg507His)	ADGRF4 (R507H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210066	NM_153838.5(ADGRF4):c.1520G>C (p.Arg507Pro)	ADGRF4 (R507P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409618	NM_153838.5(ADGRF4):c.1538G>A (p.Arg513Gln)	ADGRF4 (R513Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085659	NM_153838.5(ADGRF4):c.1681G>A (p.Ala561Thr)	ADGRF4 (A561T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085661	NM_153838.5(ADGRF4):c.1694C>T (p.Pro565Leu)	ADGRF4 (P565L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377759	NM_153838.5(ADGRF4):c.1702G>A (p.Val568Ile)	ADGRF4 (V568I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285098	NM_153838.5(ADGRF4):c.1825A>G (p.Ile609Val)	ADGRF4 (I609V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531884	NM_153838.5(ADGRF4):c.1961T>C (p.Ile654Thr)	ADGRF4 (I654T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248489	NM_153838.5(ADGRF4):c.1976T>A (p.Ile659Lys)	ADGRF4 (I659K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364486	NM_153838.5(ADGRF4):c.1982A>G (p.Asp661Gly)	ADGRF4 (D661G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409331	NM_153838.5(ADGRF4):c.2020T>C (p.Ser674Pro)	ADGRF4 (S674P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085684	NM_153838.5(ADGRF4):c.2021C>T (p.Ser674Leu)	ADGRF4 (S674L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262890	NM_153838.5(ADGRF4):c.2038G>T (p.Ala680Ser)	ADGRF4 (A680S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085690	NM_153838.5(ADGRF4):c.2077C>T (p.Arg693Cys)	ADGRF4 (R693C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 1527236	GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320)	ADGRF5, ANKRD66 +50 more	Copy number loss	not specified	GPathogenic
Select item 1341308	GRCh37/hg19 6p12.3(chr6:47410548-47701681)x3	ADGRF2, ADGRF4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 58