8016[HGNC] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 150568	GRCh38/hg38 17q21.31(chr17:45579327-46661960)x1	ARL17A, ARL17B +19 more	Copy number loss	See cases	GPathogenic
Select item 57050	GRCh38/hg38 17q21.31(chr17:45629520-46661960)x1	ARL17A, ARL17B +19 more	Copy number loss	See cases	GPathogenic
Select item 57467	GRCh38/hg38 17q21.31(chr17:46061147-46661960)x1	ARL17A, ARL17B +9 more	Copy number loss	See cases	GBenign
Select item 149987	GRCh38/hg38 17q21.31(chr17:46061149-46661960)x1	LRRC37A, ARL17A +9 more	Copy number loss	See cases	GLikely benign
Select item 32948	GRCh38/hg38 17q21.31(chr17:46111075-46661960)x1	ARL17A, ARL17B +9 more	Copy number loss	See cases	GBenign
Select item 154554	GRCh38/hg38 17q21.31(chr17:46130519-46662118)x3	ARL17A, ARL17B +9 more	Copy number gain	See cases	GLikely benign
Select item 150183	GRCh38/hg38 17q21.31(chr17:46130519-46799417)x1	ARL17A, ARL17B +13 more	Copy number loss	See cases	GBenign
Select item 146760	GRCh38/hg38 17q21.31(chr17:46130519-46661960)x1	ARL17A, ARL17B +9 more	Copy number loss	See cases	GBenign/Likely benign
Select item 154310	GRCh38/hg38 17q21.31(chr17:46130611-46661960)x3	ARL17A, ARL17B +9 more	Copy number gain	See cases	GBenign
Select item 153070	GRCh38/hg38 17q21.31(chr17:46133397-46710558)x3	ARL17A, ARL17B +9 more	Copy number gain	See cases	GBenign
Select item 149785	GRCh38/hg38 17q21.31(chr17:46161863-46661960)x3	LRRC37A2, NSF +8 more	Copy number gain	See cases	GBenign
Select item 153006	GRCh38/hg38 17q21.31(chr17:46176989-46661960)x1	ARL17A, ARL17B +8 more	Copy number loss	See cases	GBenign
Select item 57297	GRCh38/hg38 17q21.31(chr17:46176989-46742963)x1	ARL17A, ARL17B +9 more	Copy number loss	See cases	GBenign
Select item 150439	GRCh38/hg38 17q21.31(chr17:46219761-46661960)x3	ARL17A, ARL17B +7 more	Copy number gain	See cases	GLikely benign
Select item 146979	GRCh38/hg38 17q21.31(chr17:46247856-46681550)x1	ARL17A, ARL17B +6 more	Copy number loss	See cases	GBenign
Select item 147866	GRCh38/hg38 17q21.31(chr17:46273727-46661960)x3	ARL17A, ARL17B +6 more	Copy number gain	See cases	GBenign
Select item 144324	GRCh38/hg38 17q21.31(chr17:46273727-46661960)x1	ARL17A, ARL17B +6 more	Copy number loss	See cases	GBenign
Select item 149409	GRCh38/hg38 17q21.31(chr17:46273730-46661960)x1	ARL17A, ARL17B +6 more	Copy number loss	See cases	GLikely benign
Select item 149813	GRCh38/hg38 17q21.31(chr17:46297929-46710337)x3	ARL17A, ARL17B +5 more	Copy number gain	See cases	GLikely benign
Select item 147986	GRCh38/hg38 17q21.31(chr17:46304332-46685375)x3	ARL17A, ARL17B +5 more	Copy number gain	See cases	GBenign
Select item 150912	GRCh38/hg38 17q21.31(chr17:46322082-46685236)x1	ARL17A, ARL17B +5 more	Copy number loss	See cases	GLikely benign
Select item 150896	GRCh38/hg38 17q21.31(chr17:46322082-46661960)x3	ARL17A, ARL17B +5 more	Copy number gain	See cases	GLikely benign
Select item 150880	GRCh38/hg38 17q21.31(chr17:46322082-46661960)x3	ARL17A, ARL17B +5 more	Copy number gain	See cases	GLikely benign
Select item 147989	GRCh38/hg38 17q21.31(chr17:46347056-46661960)x1	ARL17A, ARL17B +4 more	Copy number loss	See cases	GBenign
Select item 150670	GRCh38/hg38 17q21.31(chr17:46348112-46661960)x3	ARL17A, ARL17B +4 more	Copy number gain	See cases	GLikely benign
Select item 154577	GRCh38/hg38 17q21.31(chr17:46444520-46661960)x3	ARL17A, FAM215B +2 more	Copy number gain	See cases	GBenign
Select item 147119	GRCh38/hg38 17q21.31(chr17:46444520-46681549)x1	ARL17A, FAM215B +2 more	Copy number loss	See cases	GBenign
Select item 59307	GRCh38/hg38 17q21.31-21.32(chr17:46444520-46990403)x3	ARL17A, FAM215B +16 more	Copy number gain	See cases	GUncertain significance
Select item 57349	GRCh38/hg38 17q21.31(chr17:46444520-46742963)x1	FAM215B, ARL17A +3 more	Copy number loss	See cases	GBenign
Select item 2647864	NM_006178.4(NSF):c.951T>A (p.Gly317=)	LRRC37A2, NSF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2474496	NM_006178.4(NSF):c.1031C>T (p.Thr344Met)	LRRC37A2, NSF (T344M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528002	NM_006178.4(NSF):c.1039C>T (p.His347Tyr)	LRRC37A2, NSF (H347Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2500351	NM_006178.4(NSF):c.1078G>T (p.Gly360Cys)	LRRC37A2, NSF (G360C)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 96	GUncertain significance
Select item 2308915	NM_006178.4(NSF):c.1246G>A (p.Gly416Arg)	LRRC37A2, NSF (G416R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1335280	NM_006178.4(NSF):c.1275C>T (p.Asp425=)	LRRC37A2, NSF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 585125	NM_006178.4(NSF):c.1289C>T (p.Ala430Val)	NSF, LRRC37A2 (A430V)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 2647865	NM_006178.4(NSF):c.1291G>A (p.Val431Met)	NSF, LRRC37A2 (V431M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2647866	NM_006178.4(NSF):c.1296G>A (p.Glu432=)	LRRC37A2, NSF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1321305	NM_006178.4(NSF):c.1359G>A (p.Met453Ile)	LRRC37A2, NSF (M453I)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 96	GUncertain significance
Select item 1120201	NM_006178.4(NSF):c.1375G>A (p.Ala459Thr)	LRRC37A2, NSF (A459T)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 96	GPathogenic
Select item 3025118	NM_006178.4(NSF):c.1516G>A (p.Gly506Ser)	LRRC37A2, NSF (G506S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1699024	NM_006178.4(NSF):c.1590_1592dup (p.Ser531_Asp532insSer)	LRRC37A2, NSF	Duplication (inframe_insertion +1 more)	Developmental and epileptic encephalopathy 96	GUncertain significance
Select item 3301145	NM_006178.4(NSF):c.1615G>A (p.Val539Met)	LRRC37A2, NSF (V539M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2434446	NM_006178.4(NSF):c.1688C>G (p.Pro563Arg)	LRRC37A2, NSF (P563R)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 96	GLikely pathogenic
Select item 1120202	NM_006178.4(NSF):c.1688C>T (p.Pro563Leu)	LRRC37A2, NSF (P563L)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 96 +1 more	GPathogenic/Likely pathogenic
Select item 775110	NM_006178.4(NSF):c.1731T>C (p.Ser577=)	LRRC37A2, NSF	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 3339998	NM_006178.4(NSF):c.1814T>C (p.Ile605Thr)	LRRC37A2, NSF (I605T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2647867	NM_006178.4(NSF):c.1825C>T (p.Leu609Phe)	NSF, LRRC37A2 (L609F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2647868	NM_006178.4(NSF):c.1937C>G (p.Thr646Ser)	LRRC37A2, NSF (T646S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2329962	NM_006178.4(NSF):c.2009T>C (p.Ile670Thr)	LRRC37A2, NSF (I670T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318210	NM_006178.4(NSF):c.2071C>T (p.Arg691Cys)	LRRC37A2, NSF (R691C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202345	NM_006178.4(NSF):c.2074A>G (p.Thr692Ala)	LRRC37A2, NSF (T692A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2647869	NM_006178.4(NSF):c.2125A>C (p.Lys709Gln)	LRRC37A2, NSF (K709Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 815938	GRCh37/hg19 17q21.31(chr17:43655356-44784639)x3	ARL17A, ARL17B +8 more	Copy number gain	not provided	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +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

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Items: 59