GTF2A1L[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 144457	GRCh38/hg38 2p21-16.3(chr2:46806218-50565538)x1	BCYRN1, CALM2 +94 more	Copy number loss	See cases	GPathogenic
Select item 153714	GRCh38/hg38 2p16.3(chr2:48543380-49241978)x3	FSHR, GTF2A1L +10 more	Copy number gain	See cases	GUncertain significance
Select item 154470	GRCh38/hg38 2p16.3(chr2:48581695-49195508)x3	FSHR, GTF2A1L +10 more	Copy number gain	See cases	GLikely benign
Select item 2287112	NM_006872.5(GTF2A1L):c.8G>C (p.Cys3Ser)	GTF2A1L, STON1-GTF2A1L (C3S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103036	NM_006872.5(GTF2A1L):c.46G>C (p.Glu16Gln)	GTF2A1L, STON1-GTF2A1L (E720Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103046	NM_006872.5(GTF2A1L):c.68G>A (p.Arg23Gln)	GTF2A1L, STON1-GTF2A1L (R727Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103029	NM_006872.5(GTF2A1L):c.173G>A (p.Arg58Lys)	GTF2A1L, STON1-GTF2A1L (R762K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103030	NM_006872.5(GTF2A1L):c.222G>C (p.Leu74Phe)	GTF2A1L, STON1-GTF2A1L (L74F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151770	GRCh38/hg38 2p16.3(chr2:48634764-48761441)x0	GTF2A1L, LHCGR +3 more	Copy number loss	See cases	GPathogenic
Select item 3103031	NM_006872.5(GTF2A1L):c.393C>G (p.His131Gln)	GTF2A1L, STON1-GTF2A1L (H788Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103033	NM_006872.5(GTF2A1L):c.407A>T (p.Asn136Ile)	GTF2A1L, STON1-GTF2A1L (N102I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103032	NM_006872.5(GTF2A1L):c.407A>G (p.Asn136Ser)	GTF2A1L, STON1-GTF2A1L (N102S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103034	NM_006872.5(GTF2A1L):c.448A>G (p.Ile150Val)	GTF2A1L, STON1-GTF2A1L (I116V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103035	NM_006872.5(GTF2A1L):c.461C>T (p.Pro154Leu)	GTF2A1L, STON1-GTF2A1L (P120L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103037	NM_006872.5(GTF2A1L):c.547A>G (p.Thr183Ala)	GTF2A1L, STON1-GTF2A1L (T149A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103038	NM_006872.5(GTF2A1L):c.584A>G (p.Gln195Arg)	GTF2A1L, STON1-GTF2A1L (Q195R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103039	NM_006872.5(GTF2A1L):c.587A>C (p.Gln196Pro)	GTF2A1L, STON1-GTF2A1L (Q853P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103040	NM_006872.5(GTF2A1L):c.592G>A (p.Ala198Thr)	GTF2A1L, STON1-GTF2A1L (A855T +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103041	NM_006872.5(GTF2A1L):c.593C>T (p.Ala198Val)	GTF2A1L, STON1-GTF2A1L (A164V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103042	NM_006872.5(GTF2A1L):c.611C>T (p.Pro204Leu)	GTF2A1L, STON1-GTF2A1L (P170L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103043	NM_006872.5(GTF2A1L):c.653T>C (p.Leu218Pro)	GTF2A1L, STON1-GTF2A1L (L184P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103044	NM_006872.5(GTF2A1L):c.659C>T (p.Ser220Phe)	GTF2A1L, STON1-GTF2A1L (S186F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103045	NM_006872.5(GTF2A1L):c.667A>G (p.Asn223Asp)	GTF2A1L, STON1-GTF2A1L (N880D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323375	NM_001198593.2(STON1-GTF2A1L):c.2782G>A (p.Glu928Lys)	GTF2A1L, STON1-GTF2A1L (E190K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103047	NM_006872.5(GTF2A1L):c.707A>G (p.Gln236Arg)	GTF2A1L, STON1-GTF2A1L (Q940R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103048	NM_006872.5(GTF2A1L):c.809T>G (p.Met270Arg)	GTF2A1L, STON1-GTF2A1L (M927R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103049	NM_006872.5(GTF2A1L):c.812C>G (p.Ala271Gly)	GTF2A1L, STON1-GTF2A1L (A237G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103050	NM_006872.5(GTF2A1L):c.816A>C (p.Gln272His)	GTF2A1L, STON1-GTF2A1L (Q238H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103051	NM_006872.5(GTF2A1L):c.899A>G (p.Lys300Arg)	GTF2A1L, STON1-GTF2A1L (K266R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533288	NM_006872.5(GTF2A1L):c.914G>A (p.Gly305Glu)	GTF2A1L, STON1-GTF2A1L (G1009E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103020	NM_006872.5(GTF2A1L):c.1012G>A (p.Val338Ile)	GTF2A1L, STON1-GTF2A1L (V1042I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103021	NM_006872.5(GTF2A1L):c.1055G>A (p.Ser352Asn)	GTF2A1L, STON1-GTF2A1L (S352N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103022	NM_006872.5(GTF2A1L):c.1073A>G (p.Asn358Ser)	GTF2A1L, STON1-GTF2A1L (N358S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103023	NM_006872.5(GTF2A1L):c.1089T>G (p.Ser363Arg)	GTF2A1L, STON1-GTF2A1L (S1020R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103024	NM_006872.5(GTF2A1L):c.1107G>T (p.Glu369Asp)	GTF2A1L, STON1-GTF2A1L (E1026D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103025	NM_006872.5(GTF2A1L):c.1217C>A (p.Pro406His)	GTF2A1L, STON1-GTF2A1L (P1063H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103026	NM_006872.5(GTF2A1L):c.1230T>G (p.Ile410Met)	GTF2A1L, STON1-GTF2A1L (I410M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103027	NM_006872.5(GTF2A1L):c.1319A>G (p.Gln440Arg)	GTF2A1L, STON1-GTF2A1L (Q1144R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103028	NM_006872.5(GTF2A1L):c.1337G>T (p.Arg446Leu)	GTF2A1L, STON1-GTF2A1L (R1150L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062661	GRCh37/hg19 2p16.3(chr2:48738494-49500895)x3	FSHR, GTF2A1L +4 more	Copy number gain	not specified	GUncertain significance
Select item 1809168	GRCh37/hg19 2p16.3(chr2:48785431-49478424)x3	FSHR, GTF2A1L +3 more	Copy number gain	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1399732	NC_000002.11:g.(?_48018046)_(50170949_?)dup	FOXN2, GTF2A1L +8 more	Duplication	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 1341114	GRCh37/hg19 2p16.3(chr2:48770520-49478424)x3	GTF2A1L, LHCGR +3 more	Copy number gain	not provided	GUncertain significance
Select item 1041513	NC_000002.11:g.(?_47672677)_(51259192_?)dup	FBXO11, FOXN2 +11 more	Duplication	Pitt-Hopkins-like syndrome 2	GUncertain significance
Select item 979341	GRCh37/hg19 2p16.3(chr2:48834553-49818310)x3	FSHR, GTF2A1L +2 more	Copy number gain	not provided	GUncertain significance
Select item 814244	GRCh37/hg19 2p16.3(chr2:48874796-48958998)x1	LHCGR, GTF2A1L +1 more	Copy number loss	not provided	GUncertain significance
Select item 562680	GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3	ABCG5, ABCG8 +100 more	Copy number gain	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442274	GRCh37/hg19 2p21-16.2(chr2:47361260-54934153)x1	ACYP2, ASB3 +25 more	Copy number loss	See cases	GPathogenic
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic
Select item 394538	GRCh37/hg19 2p16.3(chr2:48500265-49197158)x1	STON1, STON1-GTF2A1L +5 more	Copy number loss	See cases	GUncertain significance
Select item 393845	GRCh37/hg19 2p16.3(chr2:48692697-48897066)x3	GTF2A1L, PPP1R21 +2 more	Copy number gain	See cases	GLikely benign

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Items: 59