18990[HGNC] - ClinVar

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Items: 71

	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 3085188	NM_153840.4(ADGRF1):c.2537G>T (p.Arg846Leu)	ADGRF1 (R846L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348407	NM_153840.4(ADGRF1):c.2437G>C (p.Asp813His)	ADGRF1 (D813H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085185	NM_153840.4(ADGRF1):c.2429C>T (p.Thr810Ile)	ADGRF1 (T810I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788994	NM_153840.4(ADGRF1):c.2407A>C (p.Thr803Pro)	ADGRF1 (T803P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3085182	NM_153840.4(ADGRF1):c.2360T>C (p.Ile787Thr)	ADGRF1 (I787T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603456	NM_153840.4(ADGRF1):c.2339G>A (p.Arg780Gln)	ADGRF1 (R780Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2556842	NM_153840.4(ADGRF1):c.2338C>T (p.Arg780Trp)	ADGRF1 (R780W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344673	NM_153840.4(ADGRF1):c.2327A>G (p.Glu776Gly)	ADGRF1 (E776G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339657	NM_153840.4(ADGRF1):c.2324G>A (p.Gly775Glu)	ADGRF1 (G775E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271288	NM_153840.4(ADGRF1):c.2320G>A (p.Val774Ile)	ADGRF1 (V774I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271235	NM_153840.4(ADGRF1):c.2282T>C (p.Val761Ala)	ADGRF1 (V761A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271267	NM_153840.4(ADGRF1):c.2140T>G (p.Ser714Ala)	ADGRF1 (S714A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271226	NM_153840.4(ADGRF1):c.2134A>G (p.Ile712Val)	ADGRF1 (I712V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085171	NM_153840.4(ADGRF1):c.2065G>C (p.Val689Leu)	ADGRF1 (V689L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217804	NM_153840.4(ADGRF1):c.1925T>C (p.Ile642Thr)	ADGRF1 (I642T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227298	NM_153840.4(ADGRF1):c.1871G>T (p.Arg624Leu)	ADGRF1 (R624L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509023	NM_153840.4(ADGRF1):c.1870C>T (p.Arg624Cys)	ADGRF1 (R624C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085156	NM_153840.4(ADGRF1):c.1867C>T (p.Arg623Cys)	ADGRF1 (R623C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085150	NM_153840.4(ADGRF1):c.1858T>A (p.Ser620Thr)	ADGRF1 (S620T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085147	NM_153840.4(ADGRF1):c.1726T>A (p.Phe576Ile)	ADGRF1 (F576I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085142	NM_153840.4(ADGRF1):c.1675G>A (p.Val559Met)	ADGRF1 (V559M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457343	NM_153840.4(ADGRF1):c.1658A>G (p.Asn553Ser)	ADGRF1 (N553S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283125	NM_153840.4(ADGRF1):c.1646G>A (p.Cys549Tyr)	ADGRF1 (C549Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563416	NM_153840.4(ADGRF1):c.1636G>A (p.Asp546Asn)	ADGRF1 (D546N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2458180	NM_153840.4(ADGRF1):c.1499A>G (p.Gln500Arg)	ADGRF1 (Q500R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085129	NM_153840.4(ADGRF1):c.1477G>A (p.Val493Ile)	ADGRF1 (V493I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2354968	NM_153840.4(ADGRF1):c.1463G>A (p.Gly488Glu)	ADGRF1 (G488E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272645	NM_153840.4(ADGRF1):c.1418G>A (p.Arg473Lys)	ADGRF1 (R473K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3085120	NM_153840.4(ADGRF1):c.1346T>A (p.Ile449Asn)	ADGRF1 (I449N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212262	NM_153840.4(ADGRF1):c.1336A>G (p.Ser446Gly)	ADGRF1 (S446G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085111	NM_153840.4(ADGRF1):c.1331G>A (p.Gly444Asp)	ADGRF1 (G444D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3085110	NM_153840.4(ADGRF1):c.1306G>A (p.Val436Met)	ADGRF1 (V436M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332488	NM_153840.4(ADGRF1):c.1250C>T (p.Pro417Leu)	ADGRF1 (P417L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369452	NM_153840.4(ADGRF1):c.1247C>T (p.Pro416Leu)	ADGRF1 (P416L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271256	NM_153840.4(ADGRF1):c.1208G>C (p.Arg403Pro)	ADGRF1 (R403P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262318	NM_153840.4(ADGRF1):c.1207C>T (p.Arg403Trp)	ADGRF1 (R403W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085104	NM_153840.4(ADGRF1):c.1183C>T (p.Arg395Trp)	ADGRF1 (R395W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379800	NM_153840.4(ADGRF1):c.1172C>G (p.Thr391Arg)	ADGRF1 (T391R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455776	NM_153840.4(ADGRF1):c.1133C>T (p.Ala378Val)	ADGRF1 (A378V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265166	NM_153840.4(ADGRF1):c.1021A>G (p.Thr341Ala)	ADGRF1 (T341A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085216	NM_153840.4(ADGRF1):c.979G>A (p.Val327Met)	ADGRF1 (V327M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511615	NM_153840.4(ADGRF1):c.926A>C (p.Lys309Thr)	ADGRF1 (K309T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267335	NM_153840.4(ADGRF1):c.851C>T (p.Thr284Ile)	ADGRF1 (T284I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462812	NM_153840.4(ADGRF1):c.836A>G (p.Tyr279Cys)	ADGRF1 (Y279C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494560	NM_153840.4(ADGRF1):c.829A>C (p.Ser277Arg)	ADGRF1 (S277R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216982	NM_153840.4(ADGRF1):c.821C>T (p.Pro274Leu)	ADGRF1 (P274L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262319	NM_153840.4(ADGRF1):c.809A>T (p.Glu270Val)	ADGRF1 (E270V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252232	NM_153840.4(ADGRF1):c.686A>C (p.His229Pro)	ADGRF1 (H229P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354773	NM_153840.4(ADGRF1):c.680T>C (p.Ile227Thr)	ADGRF1 (I227T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324300	NM_153840.4(ADGRF1):c.625G>A (p.Val209Ile)	ADGRF1 (V209I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2470045	NM_153840.4(ADGRF1):c.615T>A (p.Asn205Lys)	ADGRF1 (N205K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656633	NM_153840.4(ADGRF1):c.602C>T (p.Thr201Ile)	ADGRF1 (T201I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2283410	NM_153840.4(ADGRF1):c.483G>T (p.Arg161Ser)	ADGRF1 (R161S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271277	NM_153840.4(ADGRF1):c.482G>A (p.Arg161Lys)	ADGRF1 (R161K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3085195	NM_153840.4(ADGRF1):c.368A>G (p.Tyr123Cys)	ADGRF1 (Y123C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785174	NM_153840.4(ADGRF1):c.288C>G (p.Ser96Arg)	ADGRF1 (S96R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2529621	NM_153840.4(ADGRF1):c.281G>A (p.Cys94Tyr)	ADGRF1 (C94Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271246	NM_153840.4(ADGRF1):c.159G>C (p.Gln53His)	ADGRF1 (Q53H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347007	NM_153840.4(ADGRF1):c.133G>T (p.Val45Phe)	ADGRF1 (V45F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335376	NM_153840.4(ADGRF1):c.104T>A (p.Ile35Asn)	ADGRF1 (I35N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085217	NM_153840.4(ADGRF1):c.98A>T (p.Glu33Val)	ADGRF1 (E33V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536721	NM_153840.4(ADGRF1):c.55G>A (p.Gly19Ser)	ADGRF1 (G19S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544185	NM_153840.4(ADGRF1):c.40T>C (p.Phe14Leu)	ADGRF1 (F14L)	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 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 563179	GRCh37/hg19 6p12.3(chr6:46984994-47569904)x3	TNFRSF21, ADGRF1 +1 more	Copy number gain	not provided	GLikely benign
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 71