MMD[gene] - 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 59590	GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1	ABCC3, ACSF2 +196 more	Copy number loss	See cases	GPathogenic
Select item 2647947	NM_012329.3(MMD):c.534T>C (p.Leu178=)	MMD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 778717	NM_012329.3(MMD):c.528T>C (p.Asp176=)	MMD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3216895	NM_012329.3(MMD):c.190A>T (p.Ile64Phe)	MMD (I64F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216826	NM_012329.3(MMD):c.122C>T (p.Pro41Leu)	MMD (P41L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477592	NM_012329.3(MMD):c.58C>T (p.Arg20Cys)	MMD (R20C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475010	NM_012329.3(MMD):c.12G>T (p.Lys4Asn)	MMD (K4N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295238	NM_012329.3(MMD):c.9C>A (p.Phe3Leu)	MMD (F3L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
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 564454	GRCh37/hg19 17q22(chr17:53309576-54333707)x1	ANKFN1, MMD +3 more	Copy number loss	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
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 394267	GRCh37/hg19 17q22(chr17:52189051-57477162)x3	AKAP1, ANKFN1 +42 more	Copy number gain	See cases	GPathogenic
Select item 394158	GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3	AKAP1, ANKFN1 +65 more	Copy number gain	See cases	GPathogenic