24140[HGNC] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 3125956	NM_001199172.2(MGAT5B):c.34G>C (p.Val12Leu)	MGAT5B (V12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125959	NM_001199172.2(MGAT5B):c.69-55G>A	MGAT5B (R16H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2648321	NM_001199172.2(MGAT5B):c.69-46C>T	MGAT5B (T19M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2317010	NM_001199172.2(MGAT5B):c.82G>A (p.Gly28Ser)	MGAT5B (G28S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125953	NM_001199172.2(MGAT5B):c.203G>A (p.Arg68His)	MGAT5B (R68H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125954	NM_001199172.2(MGAT5B):c.205G>A (p.Gly69Ser)	MGAT5B (G80S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589539	NM_001199172.2(MGAT5B):c.224G>A (p.Ser75Asn)	MGAT5B (S75N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207392	NM_001199172.2(MGAT5B):c.250C>T (p.Arg84Cys)	MGAT5B (R95C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616904	NM_001199172.2(MGAT5B):c.251G>A (p.Arg84His)	MGAT5B (R95H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298721	NM_001199172.2(MGAT5B):c.260C>T (p.Ala87Val)	MGAT5B (A98V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336485	NM_001199172.2(MGAT5B):c.296G>A (p.Arg99Gln)	MGAT5B (R110Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125955	NM_001199172.2(MGAT5B):c.304G>A (p.Gly102Ser)	MGAT5B (G102S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552098	NM_001199172.2(MGAT5B):c.314A>G (p.His105Arg)	MGAT5B (H116R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615733	NM_001199172.2(MGAT5B):c.334C>G (p.Pro112Ala)	MGAT5B (P123A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125957	NM_001199172.2(MGAT5B):c.359G>A (p.Arg120Gln)	MGAT5B (R131Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125958	NM_001199172.2(MGAT5B):c.382G>A (p.Val128Ile)	MGAT5B (V128I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383612	NM_001199172.2(MGAT5B):c.418C>T (p.Arg140Cys)	MGAT5B (R151C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465210	NM_001199172.2(MGAT5B):c.496C>T (p.Pro166Ser)	MGAT5B (P177S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290527	NM_001199172.2(MGAT5B):c.632T>C (p.Leu211Pro)	MGAT5B (L211P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541841	NM_001199172.2(MGAT5B):c.770G>A (p.Arg257Gln)	MGAT5B (R257Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125961	NM_001199172.2(MGAT5B):c.812G>A (p.Arg271His)	MGAT5B (R271H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247023	NM_001199172.2(MGAT5B):c.898G>A (p.Val300Met)	MGAT5B (V300M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125962	NM_001199172.2(MGAT5B):c.961C>A (p.Leu321Met)	MGAT5B (L332M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125946	NM_001199172.2(MGAT5B):c.967G>A (p.Ala323Thr)	MGAT5B (A334T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648322	NM_001199172.2(MGAT5B):c.1041G>A (p.Pro347=)	MGAT5B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3125947	NM_001199172.2(MGAT5B):c.1048C>T (p.Arg350Trp)	MGAT5B (R361W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358693	NM_001199172.2(MGAT5B):c.1049G>A (p.Arg350Gln)	MGAT5B (R350Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266249	NM_001199172.2(MGAT5B):c.1051G>A (p.Gly351Arg)	MGAT5B (G351R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125948	NM_001199172.2(MGAT5B):c.1056C>A (p.Ser352Arg)	MGAT5B (S352R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125949	NM_001199172.2(MGAT5B):c.1084G>A (p.Asp362Asn)	MGAT5B (D362N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125950	NM_001199172.2(MGAT5B):c.1177G>A (p.Asp393Asn)	MGAT5B (D404N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305043	NM_001199172.2(MGAT5B):c.1237C>T (p.Arg413Trp)	MGAT5B (R424W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648323	NM_001199172.2(MGAT5B):c.1252_1262del (p.Tyr418fs)	MGAT5B (Y418fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2370031	NM_001199172.2(MGAT5B):c.1346C>T (p.Thr449Met)	MGAT5B (T449M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297800	NM_001199172.2(MGAT5B):c.1465A>G (p.Met489Val)	MGAT5B (M487V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619540	NM_001199172.2(MGAT5B):c.1504C>A (p.Pro502Thr)	MGAT5B (P511T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283576	NM_001199172.2(MGAT5B):c.1591A>G (p.Ile531Val)	MGAT5B (I531V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405944	NM_001199172.2(MGAT5B):c.1754C>T (p.Ala585Val)	MGAT5B (A583V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648324	NM_001199172.2(MGAT5B):c.1767C>T (p.Ile589=)	MGAT5B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2262071	NM_001199172.2(MGAT5B):c.1854C>A (p.Asp618Glu)	MGAT5B (D616E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208513	NM_001199172.2(MGAT5B):c.1966G>A (p.Ala656Thr)	MGAT5B (A665T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3125951	NM_001199172.2(MGAT5B):c.1977C>A (p.Ser659Arg)	MGAT5B (S659R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376935	NM_001199172.2(MGAT5B):c.2069G>A (p.Arg690Gln)	MGAT5B (R690Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648325	NM_001199172.2(MGAT5B):c.2082C>T (p.Ala694=)	MGAT5B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2597284	NM_001199172.2(MGAT5B):c.2086C>T (p.Pro696Ser)	MGAT5B (P696S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125952	NM_001199172.2(MGAT5B):c.2104G>A (p.Asp702Asn)	MGAT5B (D700N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	CANT1, CARD14 +146 more	Copy number gain	not provided	GPathogenic
Select item 815954	GRCh37/hg19 17q25.1-25.3(chr17:74509193-75602123)x1	ST6GALNAC1, MGAT5B +10 more	Copy number loss	not provided	GUncertain significance
Select item 815953	GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	AANAT, ACOX1 +84 more	Copy number gain	not provided	GPathogenic
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 443013	GRCh37/hg19 17q25.1-25.2(chr17:73992637-75099218)x4	AANAT, CDK3 +25 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +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: 60