ClinVar for Gene (Select 135154) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2590455	NM_145267.3(SDHAF4):c.27G>T (p.Leu9Phe)	SDHAF4 (L9F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533776	NM_145267.3(SDHAF4):c.155A>C (p.Lys52Thr)	SDHAF4 (K52T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484852	NM_145267.3(SDHAF4):c.58G>A (p.Ala20Thr)	SDHAF4 (A20T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335763	NM_145267.3(SDHAF4):c.10T>A (p.Ser4Thr)	SDHAF4 (S4T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333093	NM_145267.3(SDHAF4):c.187G>T (p.Asp63Tyr)	SDHAF4 (D63Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208714	NM_145267.3(SDHAF4):c.11C>T (p.Ser4Leu)	SDHAF4 (S4L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1807976	GRCh37/hg19 6q13(chr6:70320224-71568417)x3	COL19A1, COL9A1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1710926	GRCh37/hg19 6q13(chr6:71105038-75200617)x1	DPPA5, EEF1A1 +17 more	Copy number loss	Autism	GPathogenic
Select item 1703664	GRCh37/hg19 6q12-14.1(chr6:64954687-79581678)	B3GAT2, CD109 +32 more	Copy number loss	Chromosome 6q11-q14 deletion syndrome	GPathogenic
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	KHDC1L, KHDC3L +88 more	Copy number gain	not specified	GPathogenic
Select item 1340605	GRCh37/hg19 6q13-14.1(chr6:70165296-79920769)x1	B3GAT2, CD109 +31 more	Copy number loss	not provided	GPathogenic
Select item 687049	GRCh37/hg19 6q12-13(chr6:69481460-73185349)x1	ADGRB3, B3GAT2 +9 more	Copy number loss	not provided	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 441663	GRCh37/hg19 6q13(chr6:70716539-71620525)x3	B3GAT2, COL19A1 +4 more	Copy number gain	See cases	GUncertain significance
Select item 155176	GRCh38/hg38 6q13(chr6:70026943-70923391)x3	B3GAT2, COL19A1 +20 more	Copy number gain	See cases	GUncertain significance
Select item 154460	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	EEF1A1-AS1, KCNQ5-DT +310 more	Copy number loss	See cases	GPathogenic
Select item 153537	GRCh38/hg38 6q13(chr6:70252257-70855775)x3	COL9A1, FAM135A +17 more	Copy number gain	See cases	GUncertain significance
Select item 150999	GRCh38/hg38 6q13(chr6:70252200-70891985)x3	B3GAT2, COL9A1 +19 more	Copy number gain	See cases	GLikely benign
Select item 148992	GRCh38/hg38 6q12-13(chr6:68735649-70794393)x4	ADGRB3, COL19A1 +35 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 21