28230[HGNC] - ClinVar - NCBI

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Items: 18

	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 2522512	NM_032339.5(MIEN1):c.337G>A (p.Val113Ile)	MIEN1 (V113I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2328484	NM_032339.5(MIEN1):c.317C>T (p.Thr106Ile)	MIEN1 (T106I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2606480	NM_032339.5(MIEN1):c.286G>T (p.Ala96Ser)	MIEN1 (A96S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2474322	NM_032339.5(MIEN1):c.168G>C (p.Glu56Asp)	MIEN1 (E56D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208891	NM_032339.5(MIEN1):c.131G>C (p.Ser44Thr)	LOC130060770, MIEN1 (S44T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309011	NM_032339.5(MIEN1):c.67G>A (p.Val23Ile)	LOC130060770, MIEN1 (V23I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126436	NM_032339.5(MIEN1):c.26C>T (p.Ser9Phe)	LOC130060770, MIEN1 (S9F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126435	NM_032339.5(MIEN1):c.23C>G (p.Thr8Arg)	LOC130060770, MIEN1 (T8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215348	NM_032339.5(MIEN1):c.23C>T (p.Thr8Met)	LOC130060770, MIEN1 (T8M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2424720	NC_000017.10:g.(?_37821613)_(38458253_?)dup	CASC3, CDC6 +20 more	Duplication	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 564444	GRCh37/hg19 17q12(chr17:36972794-38033708)x4	STARD3, CDK12 +22 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