"GeneDx"[submitter] AND "LOC126861888"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57743	GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1	ABHD4, ANG +312 more	Copy number loss	See cases	GPathogenic
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 57746	GRCh38/hg38 14q11.2(chr14:20475357-21613255)x1	ANG, ARHGEF40 +108 more	Copy number loss	See cases	GPathogenic
Select item 57747	GRCh38/hg38 14q11.2(chr14:20908863-21576473)x1	ARHGEF40, CHD8 +48 more	Copy number loss	See cases	GPathogenic
Select item 57748	GRCh38/hg38 14q11.2(chr14:21224511-21455608)x1	CHD8, HNRNPC +8 more	Copy number loss	See cases	GPathogenic
Select item 1271617	NM_001170629.2(CHD8):c.7065+86A>G	CHD8, LOC126861888	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1304455	NM_001170629.2(CHD8):c.7055G>A (p.Arg2352Gln)	CHD8, LOC126861888 (R2073Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 196943	NM_001170629.2(CHD8):c.7036G>A (p.Glu2346Lys)	CHD8, LOC126861888 (E2067K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 3363646	NM_001170629.2(CHD8):c.7023A>T (p.Leu2341Phe)	CHD8, LOC126861888 (L2062F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817233	NM_001170629.2(CHD8):c.7010_7014dup (p.Met2339fs)	CHD8, LOC126861888 (M2060fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1706251	NM_001170629.2(CHD8):c.7000C>T (p.Arg2334Trp)	CHD8, LOC126861888 (R2055W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371812	NM_001170629.2(CHD8):c.6970A>G (p.Thr2324Ala)	CHD8, LOC126861888 (T2045A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 423861	NM_001170629.2(CHD8):c.6947del (p.Pro2316fs)	CHD8, LOC126861888 (P2037fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3369477	NM_001170629.2(CHD8):c.6910C>G (p.Pro2304Ala)	CHD8, LOC126861888 (P2025A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 504097	NM_001170629.2(CHD8):c.6876dup (p.Leu2293fs)	LOC126861888, CHD8 (L2014fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1678567	NM_001170629.2(CHD8):c.6853AAG[2] (p.Lys2287del)	CHD8, LOC126861888 (K2008del +1 more)	Microsatellite (inframe_deletion)	not specified +3 more	GUncertain significance
Select item 1678814	NM_001170629.2(CHD8):c.6850C>A (p.His2284Asn)	CHD8, LOC126861888 (H2005N +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 589553	NM_001170629.2(CHD8):c.6830G>C (p.Gly2277Ala)	CHD8, LOC126861888 (G1998A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 589146	NM_001170629.2(CHD8):c.6816G>A (p.Ala2272=)	CHD8, LOC126861888	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1809942	NM_001170629.2(CHD8):c.6772G>C (p.Glu2258Gln)	CHD8, LOC126861888 (E1979Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1203118	NM_001170629.2(CHD8):c.6772-103T>G	CHD8, LOC126861888	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269358	NM_001170629.2(CHD8):c.6772-255C>T	CHD8, LOC126861888 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign

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Items: 22