11502[HGNC] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 2356956	NM_012451.4(SYNGR4):c.40G>A (p.Glu14Lys)	SYNGR4 (E14K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360793	NM_012451.4(SYNGR4):c.88G>A (p.Glu30Lys)	SYNGR4 (E30K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377712	NM_012451.4(SYNGR4):c.180C>A (p.Asn60Lys)	SYNGR4 (N60K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172785	NM_012451.4(SYNGR4):c.184A>G (p.Asn62Asp)	SYNGR4 (N62D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553803	NM_012451.4(SYNGR4):c.218G>T (p.Gly73Val)	SYNGR4 (G73V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323947	NM_012451.4(SYNGR4):c.224T>C (p.Leu75Pro)	SYNGR4 (L75P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172786	NM_012451.4(SYNGR4):c.247T>C (p.Phe83Leu)	SYNGR4 (F83L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323949	NM_012451.4(SYNGR4):c.253G>A (p.Val85Ile)	SYNGR4 (V85I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601246	NM_012451.4(SYNGR4):c.270G>T (p.Glu90Asp)	SYNGR4 (E90D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172787	NM_012451.4(SYNGR4):c.287C>T (p.Thr96Ile)	SYNGR4 (T96I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650197	NM_012451.4(SYNGR4):c.395C>T (p.Pro132Leu)	SYNGR4 (P132L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2354058	NM_012451.4(SYNGR4):c.416G>A (p.Gly139Glu)	SYNGR4 (G139E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299048	NM_012451.4(SYNGR4):c.457T>C (p.Ser153Pro)	SYNGR4 (S153P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345860	NM_012451.4(SYNGR4):c.463C>T (p.Leu155Phe)	SYNGR4 (L155F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599272	NM_012451.4(SYNGR4):c.530A>C (p.Lys177Thr)	SYNGR4 (K177T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172789	NM_012451.4(SYNGR4):c.544G>A (p.Glu182Lys)	SYNGR4 (E182K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354260	NM_012451.4(SYNGR4):c.550G>A (p.Gly184Ser)	SYNGR4 (G184S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559464	NM_012451.4(SYNGR4):c.574T>G (p.Leu192Val)	SYNGR4 (L192V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327239	NM_012451.4(SYNGR4):c.614G>A (p.Gly205Asp)	SYNGR4 (G205D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323948	NM_012451.4(SYNGR4):c.664G>A (p.Ala222Thr)	SYNGR4 (A222T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2387072	NM_012451.4(SYNGR4):c.679C>T (p.Arg227Trp)	SYNGR4 (R227W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +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)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 688109	GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3	HSD17B14, IZUMO1 +58 more	Copy number gain	not provided	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 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 253887	GRCh37/hg19 19q13.33(chr19:48876760-49053557)x3	KDELR1, GRIN2D +5 more	Copy number gain	See cases	GUncertain significance

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Items: 33