ClinVar for Gene (Select 10945) - ClinVar - NCBI

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2607438	NM_006801.3(KDELR1):c.479C>T (p.Thr160Met)	KDELR1 (T160M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601669	NM_006801.3(KDELR1):c.298G>A (p.Val100Ile)	KDELR1 (V100I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2489059	NM_006801.3(KDELR1):c.46A>G (p.Ile16Val)	KDELR1 (I16V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325647	NM_006801.3(KDELR1):c.283G>A (p.Val95Met)	KDELR1 (V95M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225465	NM_006801.3(KDELR1):c.461C>T (p.Ala154Val)	KDELR1 (A154V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214877	NM_006801.3(KDELR1):c.7C>A (p.Leu3Ile)	KDELR1 (L3I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	FLT3LG, FPR1 +308 more	Copy number gain	not provided	GPathogenic
Select item 980767	GRCh37/hg19 19q13.33(chr19:48854319-49430535)x3	BCAT2, CA11 +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	FUZ, GARIN5A +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	CLDND2, IGSF23 +293 more	Copy number gain	not provided	GPathogenic
Select item 688109	GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3	BAX, BCAT2 +58 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253887	GRCh37/hg19 19q13.33(chr19:48876760-49053557)x3	KDELR1, GRIN2D +5 more	Copy number gain	See cases	GUncertain significance
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	AP2S1, ARHGAP35 +290 more	Copy number gain	See cases	GPathogenic