27258[HGNC] - ClinVar

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Items: 51

	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 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 3153171	NM_178126.4(RETREG3):c.1397A>G (p.His466Arg)	RETREG3 (H466R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153170	NM_178126.4(RETREG3):c.1325C>G (p.Ala442Gly)	RETREG3 (A442G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488579	NM_178126.4(RETREG3):c.1301C>T (p.Pro434Leu)	RETREG3 (P434L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153169	NM_178126.4(RETREG3):c.1295G>A (p.Arg432Gln)	RETREG3 (R432Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615024	NM_178126.4(RETREG3):c.1294C>T (p.Arg432Trp)	RETREG3 (R432W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313765	NM_178126.4(RETREG3):c.1292T>A (p.Leu431His)	RETREG3 (L431H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153168	NM_178126.4(RETREG3):c.1286G>C (p.Gly429Ala)	RETREG3 (G429A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153167	NM_178126.4(RETREG3):c.1241C>T (p.Ser414Phe)	RETREG3 (S414F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153166	NM_178126.4(RETREG3):c.1238C>T (p.Ala413Val)	RETREG3 (A413V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153165	NM_178126.4(RETREG3):c.1126G>A (p.Glu376Lys)	RETREG3 (E376K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153163	NM_178126.4(RETREG3):c.1100C>G (p.Pro367Arg)	RETREG3 (P367R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153162	NM_178126.4(RETREG3):c.1076G>A (p.Arg359His)	RETREG3 (R359H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153160	NM_178126.4(RETREG3):c.1066T>G (p.Leu356Val)	RETREG3 (L356V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610715	NM_178126.4(RETREG3):c.1024G>A (p.Gly342Ser)	RETREG3 (G342S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153159	NM_178126.4(RETREG3):c.1021G>C (p.Ala341Pro)	RETREG3 (A341P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153184	NM_178126.4(RETREG3):c.837A>T (p.Glu279Asp)	RETREG3 (E279D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153183	NM_178126.4(RETREG3):c.835G>A (p.Glu279Lys)	RETREG3 (E279K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590331	NM_178126.4(RETREG3):c.767A>G (p.Asn256Ser)	RETREG3 (N256S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153182	NM_178126.4(RETREG3):c.740C>T (p.Ala247Val)	RETREG3 (A247V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552712	NM_178126.4(RETREG3):c.731G>A (p.Arg244His)	RETREG3 (R244H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153181	NM_178126.4(RETREG3):c.692G>A (p.Arg231His)	RETREG3 (R231H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153180	NM_178126.4(RETREG3):c.673C>T (p.Arg225Trp)	RETREG3 (R225W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548768	NM_178126.4(RETREG3):c.559G>A (p.Val187Ile)	RETREG3 (V187I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3153176	NM_178126.4(RETREG3):c.427C>G (p.His143Asp)	RETREG3 (H143D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551037	NM_178126.4(RETREG3):c.369C>A (p.Asp123Glu)	RETREG3 (D123E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153175	NM_178126.4(RETREG3):c.330C>G (p.Ile110Met)	RETREG3 (I110M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153174	NM_178126.4(RETREG3):c.263G>A (p.Arg88His)	RETREG3 (R88H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1290158	NM_178126.4(RETREG3):c.216C>T (p.Cys72=)	RETREG3, TUBG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3153164	NM_178126.4(RETREG3):c.110C>T (p.Ala37Val)	RETREG3 (A37V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1263791	NM_178126.4(RETREG3):c.90G>A (p.Glu30=)	RETREG3, TUBG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3153185	NM_178126.4(RETREG3):c.83C>T (p.Ser28Phe)	RETREG3 (S28F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1291801	NM_178126.4(RETREG3):c.64C>T (p.Arg22Cys)	LOC130060913, RETREG3 +1 more (R22C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3153179	NM_178126.4(RETREG3):c.61G>A (p.Gly21Ser)	LOC130060913, RETREG3 (G21S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1304893	NM_178126.4(RETREG3):c.26C>T (p.Thr9Met)	RETREG3, LOC130060913 +1 more (T9M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3153173	NM_178126.4(RETREG3):c.23C>T (p.Pro8Leu)	LOC130060913, RETREG3 (P8L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614757	NM_178126.4(RETREG3):c.19G>C (p.Val7Leu)	LOC130060913, RETREG3 (V7L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153172	NM_178126.4(RETREG3):c.13G>C (p.Glu5Gln)	LOC130060913, RETREG3 (E5Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153178	NM_178126.4(RETREG3):c.5C>G (p.Ala2Gly)	LOC130060913, RETREG3 (A2G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1296635	NM_178126.4(RETREG3):c.-9C>G	LOC130060913, RETREG3 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 672681	NM_178126.4(RETREG3):c.-11G>T	LOC130060913, RETREG3 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1220105	NM_178126.4(RETREG3):c.-26C>T	LOC130060913, RETREG3 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1189783	NM_178126.4(RETREG3):c.-38C>T	LOC130060913, RETREG3 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3338057	NM_001070.5(TUBG1):c.664A>C (p.Asn222His)	RETREG3, TUBG1 (N222H)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 4	GLikely pathogenic
Select item 686402	GRCh37/hg19 17q21.2(chr17:40595473-40785031)x3	ATP6V0A1, COASY +6 more	Copy number gain	not provided	GUncertain significance
Select item 686203	GRCh37/hg19 17q21.2(chr17:40583927-40778487)x3	ATP6V0A1, COASY +6 more	Copy number gain	not provided	GUncertain significance
Select item 564446	GRCh37/hg19 17q21.2(chr17:40570771-40797461)x3	HSD17B1, NAGLU +7 more	Copy number gain	not provided	GUncertain significance
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

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Items: 51