ClinVar for Gene (Select 6668) - ClinVar

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Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024782	NM_003110.6(SP2):c.1482C>A (p.Thr494=)	SP2, SP2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647880	NM_003110.6(SP2):c.579C>T (p.Pro193=)	SP2, SP2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2545647	NM_003110.6(SP2):c.1086G>C (p.Glu362Asp)	SP2, SP2-AS1 (E362D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514814	NM_003110.6(SP2):c.713C>A (p.Thr238Asn)	SP2, SP2-AS1 (T238N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512514	NM_003110.6(SP2):c.167C>T (p.Pro56Leu)	SP2, SP2-AS1 (P49L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506553	GRCh37/hg19 17q21.32(chr17:44949883-46507482)	EFCAB13, GOSR2 +24 more	Copy number gain	PNPO-related disorders	GLikely pathogenic
Select item 2410937	NM_003110.6(SP2):c.965G>A (p.Arg322Gln)	SP2, SP2-AS1 (R322Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368667	NM_003110.6(SP2):c.954G>C (p.Gln318His)	SP2, SP2-AS1 (Q318H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363079	NM_003110.6(SP2):c.1829C>T (p.Thr610Met)	SP2, SP2-AS1 (T610M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338996	NM_003110.6(SP2):c.349C>T (p.Pro117Ser)	SP2-AS1, SP2 (P110S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330101	NM_003110.6(SP2):c.827A>G (p.Asn276Ser)	SP2, SP2-AS1 (N276S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326111	NM_003110.6(SP2):c.589G>A (p.Gly197Arg)	SP2-AS1, SP2 (G197R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305914	NM_003110.6(SP2):c.1610G>A (p.Arg537His)	SP2, SP2-AS1 (R537H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293889	NM_003110.6(SP2):c.601G>C (p.Val201Leu)	SP2, SP2-AS1 (V194L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290455	NM_003110.6(SP2):c.676G>A (p.Gly226Arg)	SP2, SP2-AS1 (G219R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275710	NM_003110.6(SP2):c.388A>G (p.Ile130Val)	SP2, SP2-AS1 (I123V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267406	NM_003110.6(SP2):c.560C>T (p.Ser187Leu)	SP2, SP2-AS1 (S180L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262266	NM_003110.6(SP2):c.830T>A (p.Ile277Asn)	SP2, SP2-AS1 (I277N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261886	NM_003110.6(SP2):c.632C>T (p.Thr211Met)	SP2, SP2-AS1 (T211M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257473	NM_003110.6(SP2):c.823G>A (p.Asp275Asn)	SP2-AS1, SP2 (D275N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228926	NM_003110.6(SP2):c.1456A>G (p.Met486Val)	SP2-AS1, SP2 (M486V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 564451	GRCh37/hg19 17q21.32(chr17:45884442-46124946)x3	PRR15L, SP6 +9 more	Copy number gain	not provided	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 221347	chr17:45008570..45994044 complex variant	CDC27, EFCAB13 +14 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 145638	GRCh38/hg38 17q21.32(chr17:47686487-47986961)x1	CDK5RAP3, LOC109286563 +26 more	Copy number loss	See cases	GUncertain significance
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 29