ASCL3[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	CHID1, CHRNA10 +917 more	Copy number gain	See cases	GPathogenic
Select item 155423	GRCh38/hg38 11p15.4(chr11:7995676-10437205)x3	ADM, ADM-DT +135 more	Copy number gain	See cases	GUncertain significance
Select item 157195	NC_000011.10:g.8937474_8943392del	ASCL3	Deletion	Preeclampsia	Gnot provided
Select item 2598067	NM_020646.3(ASCL3):c.376G>C (p.Glu126Gln)	ASCL3 (E126Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590021	NM_020646.3(ASCL3):c.349C>T (p.Arg117Cys)	ASCL3 (R117C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557847	NM_020646.3(ASCL3):c.338A>C (p.Tyr113Ser)	ASCL3 (Y113S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130280	NM_020646.3(ASCL3):c.314G>A (p.Arg105Gln)	ASCL3 (R105Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130279	NM_020646.3(ASCL3):c.301C>T (p.Arg101Trp)	ASCL3 (R101W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401691	NM_020646.3(ASCL3):c.287G>A (p.Arg96Gln)	ASCL3 (R96Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338309	NM_020646.3(ASCL3):c.271G>A (p.Gly91Arg)	ASCL3 (G91R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274186	NM_020646.3(ASCL3):c.181G>A (p.Asp61Asn)	ASCL3 (D61N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267009	NM_020646.3(ASCL3):c.115G>A (p.Val39Met)	ASCL3 (V39M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532688	NM_020646.3(ASCL3):c.101T>C (p.Met34Thr)	ASCL3 (M34T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621258	NM_020646.3(ASCL3):c.95A>G (p.Glu32Gly)	ASCL3 (E32G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315362	NM_020646.3(ASCL3):c.12C>A (p.Asn4Lys)	ASCL3 (N4K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242315	GRCh37/hg19 11p15.4(chr11:8548056-10497905)x3	ADM, AKIP1 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	ART1, CD81 +308 more	Copy number gain	See cases	GPathogenic
Select item 815409	GRCh37/hg19 11p15.4(chr11:8859352-9226956)x3	ASCL3, AKIP1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CCKBR, OR56A4 +343 more	Copy number gain	not provided	GPathogenic
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	ADM, AKIP1 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	RASSF10, RASSF7 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	OR2AG2, OR2D2 +222 more	Copy number gain	not provided	GPathogenic
Select item 563871	GRCh37/hg19 11p15.4(chr11:6969013-9257231)x3	ZNF214, NLRP10 +28 more	Copy number gain	not provided	GPathogenic
Select item 563868	GRCh37/hg19 11p15.4(chr11:7837338-9295428)x3	TRIM66, STK33 +18 more	Copy number gain	not provided	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	ABCC8, ADM +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ABCC8, ADM +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	OR2AG2, OR2D2 +364 more	Copy number gain	See cases	GPathogenic
Select item 395121	GRCh37/hg19 11p15.4(chr11:8959136-8964546)x1	ASCL3	Copy number loss	See cases	Gconflicting data from submitters
Select item 395012	GRCh37/hg19 11p15.4(chr11:8902282-9200052)x3	NRIP3, AKIP1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 394901	GRCh37/hg19 11p15.4(chr11:8959136-8968875)x1	ASCL3, TMEM9B	Copy number loss	See cases	GLikely benign

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Items: 33