17003[HGNC] - ClinVar

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Items: 26

	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 2288534	NM_006873.4(STON1):c.176G>A (p.Ser59Asn)	STON1, STON1-GTF2A1L (S59N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722414	NM_006873.4(STON1):c.353G>T (p.Gly118Val)	STON1-GTF2A1L, STON1 (G118V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 154470	GRCh38/hg38 2p16.3(chr2:48581695-49195508)x3	FSHR, GTF2A1L +10 more	Copy number gain	See cases	GLikely benign
Select item 3171493	NM_006873.4(STON1):c.1561T>C (p.Tyr521His)	STON1, STON1-GTF2A1L (Y521H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1801812	NM_006873.4(STON1):c.2072G>T (p.Gly691Val)	STON1, STON1-GTF2A1L (G691V)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 3171494	NM_006873.4(STON1):c.2164G>A (p.Asp722Asn)	STON1, STON1-GTF2A1L (D722N)	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 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: 26