ClinVar for Gene (Select 199731) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3262917	NM_145296.2(CADM4):c.848C>T (p.Ser283Phe)	CADM4 (S283F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136593	NM_145296.2(CADM4):c.775A>C (p.Asn259His)	CADM4 (N259H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136592	NM_145296.2(CADM4):c.673A>G (p.Thr225Ala)	CADM4 (T225A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136591	NM_145296.2(CADM4):c.5G>T (p.Gly2Val)	CADM4, LOC130064603 (G2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620255	NM_145296.2(CADM4):c.133C>G (p.Arg45Gly)	CADM4 (R45G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532962	NM_145296.2(CADM4):c.537C>G (p.Ser179Arg)	CADM4 (S179R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494374	NM_145296.2(CADM4):c.895C>T (p.His299Tyr)	CADM4 (H299Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425936	NC_000019.9:g.(?_44011002)_(45213778_?)dup	CADM4, CEACAM16 +37 more	Duplication	Ethylmalonic encephalopathy	GUncertain significance
Select item 2384256	NM_145296.2(CADM4):c.569G>A (p.Arg190His)	CADM4 (R190H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318802	NM_145296.2(CADM4):c.970G>A (p.Ala324Thr)	CADM4 (A324T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305746	NM_145296.2(CADM4):c.259G>C (p.Val87Leu)	CADM4 (V87L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289339	NM_145296.2(CADM4):c.16C>A (p.Arg6Ser)	CADM4, LOC130064603 (R6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265287	NM_145296.2(CADM4):c.620C>T (p.Pro207Leu)	CADM4 (P207L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	APOC1, APOC2 +120 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 60277	GRCh38/hg38 19q13.31(chr19:43338231-43853163)x3	PHLDB3, PINLYP +55 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 20