HNF4G[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	ADHFE1, ARFGEF1 +421 more	Copy number gain	See cases	GPathogenic
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000591, LOC130000592 +470 more	Copy number gain	See cases	GPathogenic
Select item 148965	GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3	ARFGEF1, ARFGEF1-DT +245 more	Copy number gain	See cases	GPathogenic
Select item 57417	GRCh38/hg38 8q21.11-21.13(chr8:73519300-82655582)x1	CASC9, CHMP4C +169 more	Copy number loss	See cases	GPathogenic
Select item 60377	GRCh38/hg38 8q21.11-21.2(chr8:73879385-85611466)x1	LOC130000646, LOC130000647 +191 more	Copy number loss	See cases	GPathogenic
Select item 144237	GRCh38/hg38 8q21.13(chr8:74905308-81339951)x1	CASC9, CRISPLD1 +115 more	Copy number loss	See cases	GPathogenic
Select item 58430	GRCh38/hg38 8q21.13(chr8:75021712-78044590)x3	CASC9, CRISPLD1 +27 more	Copy number gain	See cases	GUncertain significance
Select item 2495436	NM_004133.5(HNF4G):c.70T>G (p.Tyr24Asp)	HNF4G (Y24D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106365	NM_004133.5(HNF4G):c.95T>C (p.Met32Thr)	HNF4G (M32T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549412	NM_004133.5(HNF4G):c.281C>A (p.Ser94Tyr)	HNF4G (S47Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514657	NM_004133.5(HNF4G):c.295C>T (p.Arg99Trp)	HNF4G (R99W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284536	NM_004133.5(HNF4G):c.428T>C (p.Phe143Ser)	HNF4G (F143S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106364	NM_004133.5(HNF4G):c.456C>A (p.Asn152Lys)	HNF4G (N152K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284535	NM_004133.5(HNF4G):c.458C>T (p.Thr153Ile)	HNF4G (T106I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337213	NM_004133.5(HNF4G):c.478C>T (p.Arg160Trp)	HNF4G (R160W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237769	NM_004133.5(HNF4G):c.529G>A (p.Val177Ile)	HNF4G (V177I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220703	NM_004133.5(HNF4G):c.568A>G (p.Met190Val)	HNF4G (M143V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535390	NM_004133.5(HNF4G):c.627A>C (p.Glu209Asp)	HNF4G (E162D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332346	NM_004133.5(HNF4G):c.631C>T (p.Pro211Ser)	HNF4G (P211S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303694	NM_004133.5(HNF4G):c.675G>C (p.Glu225Asp)	HNF4G (E178D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244286	NM_004133.5(HNF4G):c.782G>A (p.Arg261His)	HNF4G (R214H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463505	NM_004133.5(HNF4G):c.791A>G (p.Asn264Ser)	HNF4G (N217S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284534	NM_004133.5(HNF4G):c.904G>A (p.Asp302Asn)	HNF4G (D302N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362508	NM_004133.5(HNF4G):c.906T>A (p.Asp302Glu)	HNF4G (D255E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603903	NM_004133.5(HNF4G):c.943A>G (p.Ile315Val)	HNF4G (I268V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294309	NM_004133.5(HNF4G):c.1021A>G (p.Thr341Ala)	HNF4G (T294A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319859	NM_004133.5(HNF4G):c.1046T>C (p.Met349Thr)	HNF4G (M349T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559675	NM_004133.5(HNF4G):c.1056A>C (p.Gln352His)	HNF4G (Q305H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391540	NM_004133.5(HNF4G):c.1087A>G (p.Lys363Glu)	HNF4G (K363E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224328	NM_004133.5(HNF4G):c.1133A>G (p.Asn378Ser)	HNF4G (N331S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531196	NM_004133.5(HNF4G):c.1280A>G (p.Gln427Arg)	HNF4G (Q380R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527443	GRCh37/hg19 8q21.11-21.13(chr8:75338205-80221568)	CRISPLD1, HNF4G +6 more	Copy number gain	not specified	GUncertain significance
Select item 1527442	GRCh37/hg19 8q21.11-21.13(chr8:75197438-81685526)	CRISPLD1, GDAP1 +14 more	Copy number loss	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1341980	GRCh37/hg19 8q21.11-21.3(chr8:75904944-87097083)x1	CA1, CA13 +31 more	Copy number loss	Chromosome 8q21.11 deletion syndrome	GPathogenic
Select item 689093	GRCh37/hg19 8q21.11(chr8:76196797-77225996)x3	HNF4G	Copy number gain	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 563542	GRCh37/hg19 8q21.11-21.13(chr8:74942333-80413867)x1	IL7, ZFHX4 +8 more	Copy number loss	not provided	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 253364	GRCh37/hg19 8q13.3-21.13(chr8:70971013-82019151)x3	RPL7, XKR9 +34 more	Copy number gain	See cases	GLikely pathogenic

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Items: 56