ClinVar for Gene (Select 2976) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3103157	NM_001035521.3(GTF3C2):c.931C>T (p.Leu311Phe)	GTF3C2 (L311F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103156	NM_001035521.3(GTF3C2):c.628G>T (p.Val210Leu)	GTF3C2 (V210L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103155	NM_001035521.3(GTF3C2):c.419C>G (p.Pro140Arg)	GTF3C2 (P140R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103154	NM_001035521.3(GTF3C2):c.2713C>T (p.His905Tyr)	GTF3C2 (H879Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103153	NM_001035521.3(GTF3C2):c.2636T>C (p.Leu879Pro)	GTF3C2 (L853P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103152	NM_001035521.3(GTF3C2):c.2375A>G (p.Asn792Ser)	GTF3C2 (N716S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103151	NM_001035521.3(GTF3C2):c.214G>C (p.Glu72Gln)	GTF3C2 (E72Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103150	NM_001035521.3(GTF3C2):c.1778G>A (p.Arg593Gln)	GTF3C2 (R541Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103149	NM_001035521.3(GTF3C2):c.1561G>A (p.Ala521Thr)	GTF3C2, GTF3C2-AS1 (A445T +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3103148	NM_001035521.3(GTF3C2):c.1096C>T (p.Pro366Ser)	GTF3C2, GTF3C2-AS1 (P340S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2650766	NM_001035521.3(GTF3C2):c.1329C>A (p.Gly443=)	GTF3C2, GTF3C2-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2619459	NM_001035521.3(GTF3C2):c.323G>A (p.Arg108Gln)	GTF3C2 (R108Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614357	NM_001035521.3(GTF3C2):c.845C>T (p.Ser282Phe)	GTF3C2 (S282F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611868	NM_001035521.3(GTF3C2):c.944A>G (p.Lys315Arg)	GTF3C2 (K315R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551788	NM_001035521.3(GTF3C2):c.1933C>T (p.Arg645Cys)	GTF3C2 (R645C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526619	NM_001035521.3(GTF3C2):c.2557G>T (p.Val853Leu)	GTF3C2 (V777L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509145	NM_001035521.3(GTF3C2):c.301C>T (p.Arg101Trp)	GTF3C2 (R101W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427541	NC_000002.11:g.(?_24443763)_(29022169_?)dup	ZNF513, SLC5A6 +65 more	Duplication	not provided	GUncertain significance
Select item 2425074	NC_000002.11:g.(?_24443763)_(30143525_?)dup	SLC4A1AP, OTOF +72 more	Duplication	not provided	GUncertain significance
Select item 2408316	NM_001035521.3(GTF3C2):c.1457C>T (p.Thr486Ile)	GTF3C2, GTF3C2-AS1 (T460I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377908	NM_001035521.3(GTF3C2):c.770T>G (p.Val257Gly)	GTF3C2 (V257G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2375565	NM_001035521.3(GTF3C2):c.1882T>A (p.Phe628Ile)	GTF3C2 (F624I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373351	NM_001035521.3(GTF3C2):c.2327C>T (p.Ser776Phe)	GTF3C2 (S700F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371175	NM_001035521.3(GTF3C2):c.484C>G (p.Arg162Gly)	GTF3C2 (R162G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371068	NM_001035521.3(GTF3C2):c.913G>A (p.Ala305Thr)	GTF3C2 (A305T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333270	NM_001035521.3(GTF3C2):c.253T>C (p.Ser85Pro)	GTF3C2 (S85P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316846	NM_001035521.3(GTF3C2):c.2321C>T (p.Ala774Val)	GTF3C2 (A722V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307885	NM_001035521.3(GTF3C2):c.35G>A (p.Gly12Glu)	GTF3C2 (G12E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291990	NM_001035521.3(GTF3C2):c.2678C>T (p.Ser893Phe)	GTF3C2 (S841F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271429	NM_001035521.3(GTF3C2):c.302G>A (p.Arg101Gln)	GTF3C2 (R101Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258475	NM_001035521.3(GTF3C2):c.1801T>G (p.Leu601Val)	GTF3C2 (L549V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249586	NM_001035521.3(GTF3C2):c.22T>A (p.Tyr8Asn)	GTF3C2 (Y8N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241486	NM_001035521.3(GTF3C2):c.2454G>A (p.Met818Ile)	GTF3C2 (M742I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
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 1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	OTOF, OXER1 +131 more	Copy number gain	See cases	GPathogenic
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	HADHA, HADHB +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 814225	GRCh37/hg19 2p23.3(chr2:27519013-27610482)x1	PPM1G, GTF3C2 +6 more	Copy number loss	not provided	GUncertain significance
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 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	TRY-GTA2-1, UBXN2A +321 more	Copy number loss	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	ABHD1, ACP1 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	C2orf48, C2orf50 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 48