SRRM5[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 60277	GRCh38/hg38 19q13.31(chr19:43338231-43853163)x3	PHLDB3, PINLYP +55 more	Copy number gain	See cases	GUncertain significance
Select item 3170230	NM_001145641.2(SRRM5):c.133G>C (p.Val45Leu)	SRRM5, ZNF428 (V45L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276210	NM_001145641.2(SRRM5):c.155C>G (p.Ser52Cys)	SRRM5, ZNF428 (S52C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170236	NM_001145641.2(SRRM5):c.203C>T (p.Thr68Ile)	SRRM5, ZNF428 (T68I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383708	NM_001145641.2(SRRM5):c.230G>A (p.Arg77Gln)	SRRM5, ZNF428 (R77Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2275595	NM_001145641.2(SRRM5):c.232C>T (p.Pro78Ser)	SRRM5, ZNF428 (P78S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384107	NM_001145641.2(SRRM5):c.289G>A (p.Asp97Asn)	SRRM5, ZNF428 (D97N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170238	NM_001145641.2(SRRM5):c.322G>A (p.Asp108Asn)	SRRM5, ZNF428 (D108N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612580	NM_001145641.2(SRRM5):c.398A>G (p.Lys133Arg)	SRRM5, ZNF428 (K133R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509860	NM_001145641.2(SRRM5):c.433A>G (p.Ile145Val)	SRRM5, ZNF428 (I145V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350665	NM_001145641.2(SRRM5):c.435A>G (p.Ile145Met)	SRRM5, ZNF428 (I145M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2455714	NM_001145641.2(SRRM5):c.506G>A (p.Arg169Gln)	SRRM5, ZNF428 (R169Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540927	NM_001145641.2(SRRM5):c.514A>T (p.Ser172Cys)	SRRM5, ZNF428 (S172C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360389	NM_001145641.2(SRRM5):c.518A>G (p.Tyr173Cys)	SRRM5, ZNF428 (Y173C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457705	NM_001145641.2(SRRM5):c.589C>T (p.Arg197Cys)	SRRM5, ZNF428 (R197C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369955	NM_001145641.2(SRRM5):c.590G>A (p.Arg197His)	SRRM5, ZNF428 (R197H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402603	NM_001145641.2(SRRM5):c.629T>C (p.Leu210Pro)	SRRM5, ZNF428 (L210P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319275	NM_001145641.2(SRRM5):c.634G>A (p.Val212Ile)	SRRM5, ZNF428 (V212I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472741	NM_001145641.2(SRRM5):c.765G>T (p.Lys255Asn)	SRRM5, ZNF428 (K255N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623001	NM_001145641.2(SRRM5):c.1058A>C (p.His353Pro)	SRRM5, ZNF428 (H353P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376756	NM_001145641.2(SRRM5):c.1105A>G (p.Arg369Gly)	SRRM5, ZNF428 (R369G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529614	NM_001145641.2(SRRM5):c.1141A>G (p.Ser381Gly)	SRRM5, ZNF428 (S381G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170224	NM_001145641.2(SRRM5):c.1166G>A (p.Arg389His)	SRRM5, ZNF428 (R389H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3170225	NM_001145641.2(SRRM5):c.1208G>T (p.Arg403Leu)	SRRM5, ZNF428 (R403L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170226	NM_001145641.2(SRRM5):c.1255C>T (p.Pro419Ser)	SRRM5, ZNF428 (P419S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170227	NM_001145641.2(SRRM5):c.1265C>T (p.Ala422Val)	SRRM5, ZNF428 (A422V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591945	NM_001145641.2(SRRM5):c.1316G>A (p.Arg439Gln)	SRRM5, ZNF428 (R439Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170228	NM_001145641.2(SRRM5):c.1325G>A (p.Ser442Asn)	SRRM5, ZNF428 (S442N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612398	NM_001145641.2(SRRM5):c.1337C>T (p.Ala446Val)	SRRM5, ZNF428 (A446V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469072	NM_001145641.2(SRRM5):c.1418G>A (p.Arg473His)	SRRM5, ZNF428 (R473H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3170231	NM_001145641.2(SRRM5):c.1453C>T (p.His485Tyr)	SRRM5, ZNF428 (H485Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523034	NM_001145641.2(SRRM5):c.1556G>A (p.Arg519Lys)	SRRM5, ZNF428 (R519K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170232	NM_001145641.2(SRRM5):c.1578C>A (p.Ser526Arg)	SRRM5, ZNF428 (S526R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520333	NM_001145641.2(SRRM5):c.1598G>A (p.Arg533His)	SRRM5, ZNF428 (R533H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2514480	NM_001145641.2(SRRM5):c.1706G>A (p.Arg569His)	SRRM5, ZNF428 (R569H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3170233	NM_001145641.2(SRRM5):c.1739A>C (p.Glu580Ala)	SRRM5, ZNF428 (E580A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170234	NM_001145641.2(SRRM5):c.1741C>T (p.Arg581Cys)	SRRM5, ZNF428 (R581C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208674	NM_001145641.2(SRRM5):c.1784G>A (p.Arg595Gln)	SRRM5, ZNF428 (R595Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204979	NM_001145641.2(SRRM5):c.1799A>G (p.Asn600Ser)	SRRM5, ZNF428 (N600S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2461538	NM_001145641.2(SRRM5):c.1840G>A (p.Glu614Lys)	SRRM5, ZNF428 (E614K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170235	NM_001145641.2(SRRM5):c.1847C>T (p.Ala616Val)	SRRM5, ZNF428 (A616V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545650	NM_001145641.2(SRRM5):c.1897A>G (p.Arg633Gly)	SRRM5, ZNF428 (R633G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234390	NM_001145641.2(SRRM5):c.2039C>T (p.Pro680Leu)	SRRM5, ZNF428 (P680L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2529275	NM_001145641.2(SRRM5):c.2041A>G (p.Ser681Gly)	SRRM5, ZNF428 (S681G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464914	NM_001145641.2(SRRM5):c.2047G>A (p.Gly683Ser)	SRRM5, ZNF428 (G683S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549542	NM_001145641.2(SRRM5):c.2052A>C (p.Gln684His)	SRRM5, ZNF428 (Q684H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521171	NM_001145641.2(SRRM5):c.2083G>A (p.Ala695Thr)	SRRM5, ZNF428 (A695T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2548215	NM_001145641.2(SRRM5):c.2101A>T (p.Thr701Ser)	SRRM5, ZNF428 (T701S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425936	NC_000019.9:g.(?_44011002)_(45213778_?)dup	ZNF229, ZNF230 +37 more	Duplication	Ethylmalonic encephalopathy	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)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	ERCC2, PPP5C +121 more	Copy number loss	See cases	GPathogenic

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Items: 55