9234[HGNC] - ClinVar

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Items: 86

	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 152111	GRCh38/hg38 17q12(chr17:39036037-39694679)x3	ARL5C, CACNB1 +50 more	Copy number gain	See cases	GLikely benign
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 60170	GRCh38/hg38 17q12(chr17:39365569-39612092)x3	CDK12, FBXL20 +9 more	Copy number gain	See cases	GUncertain significance
Select item 3124862	NM_004774.4(MED1):c.4715A>G (p.Asp1572Gly)	MED1 (D1572G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124861	NM_004774.4(MED1):c.4708G>T (p.Asp1570Tyr)	MED1 (D1570Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293945	NM_004774.4(MED1):c.4697T>C (p.Ile1566Thr)	MED1 (I1566T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549121	NM_004774.4(MED1):c.4546C>T (p.Arg1516Trp)	MED1 (R1516W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293953	NM_004774.4(MED1):c.4520T>G (p.Val1507Gly)	MED1 (V1507G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293864	NM_004774.4(MED1):c.4505A>G (p.Lys1502Arg)	MED1 (K1502R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124860	NM_004774.4(MED1):c.4490A>T (p.His1497Leu)	MED1 (H1497L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293946	NM_004774.4(MED1):c.4460G>A (p.Arg1487Gln)	MED1 (R1487Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546591	NM_004774.4(MED1):c.4130A>C (p.Lys1377Thr)	MED1 (K1377T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460305	NM_004774.4(MED1):c.3800C>T (p.Thr1267Met)	MED1 (T1267M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124859	NM_004774.4(MED1):c.3790A>G (p.Asn1264Asp)	MED1 (N1264D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124858	NM_004774.4(MED1):c.3698A>G (p.His1233Arg)	MED1 (H1233R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458799	NM_004774.4(MED1):c.3689G>C (p.Gly1230Ala)	MED1 (G1230A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 975291	NM_004774.4(MED1):c.3680C>T (p.Ser1227Leu)	MED1 (S1227L)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 3124857	NM_004774.4(MED1):c.3625A>G (p.Met1209Val)	MED1 (M1209V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124856	NM_004774.4(MED1):c.3581C>T (p.Ser1194Phe)	MED1 (S1194F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284419	NM_004774.4(MED1):c.3570C>G (p.Asn1190Lys)	MED1 (N1190K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311802	NM_004774.4(MED1):c.3566C>A (p.Pro1189Gln)	MED1 (P1189Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124855	NM_004774.4(MED1):c.3446C>A (p.Ser1149Tyr)	MED1 (S1149Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334490	NM_004774.4(MED1):c.3426G>T (p.Gln1142His)	MED1 (Q1142H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494713	NM_004774.4(MED1):c.3416G>C (p.Gly1139Ala)	MED1 (G1139A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375388	NM_004774.4(MED1):c.3314C>T (p.Ser1105Phe)	MED1 (S1105F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124854	NM_004774.4(MED1):c.3311C>T (p.Ser1104Phe)	MED1 (S1104F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248279	NM_004774.4(MED1):c.3184A>C (p.Lys1062Gln)	MED1 (K1062Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124853	NM_004774.4(MED1):c.3101C>G (p.Pro1034Arg)	MED1 (P1034R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124852	NM_004774.4(MED1):c.3074G>A (p.Ser1025Asn)	MED1 (S1025N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293948	NM_004774.4(MED1):c.3013A>G (p.Ser1005Gly)	MED1 (S1005G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124851	NM_004774.4(MED1):c.2951C>T (p.Ser984Leu)	MED1 (S984L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519286	NM_004774.4(MED1):c.2863G>A (p.Gly955Ser)	MED1 (G955S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3293955	NM_004774.4(MED1):c.2855G>A (p.Gly952Asp)	MED1 (G952D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319455	NM_004774.4(MED1):c.2852G>A (p.Ser951Asn)	MED1 (S951N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124850	NM_004774.4(MED1):c.2827C>G (p.Pro943Ala)	MED1 (P943A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124849	NM_004774.4(MED1):c.2819C>G (p.Ala940Gly)	MED1 (A940G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216583	NM_004774.4(MED1):c.2772C>A (p.Asn924Lys)	MED1 (N924K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363364	NM_004774.4(MED1):c.2728A>G (p.Met910Val)	MED1 (M910V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535284	NM_004774.4(MED1):c.2650G>C (p.Asp884His)	MED1 (D884H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320326	NM_004774.4(MED1):c.2566A>C (p.Asn856His)	MED1 (N856H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550576	NM_004774.4(MED1):c.2561C>T (p.Pro854Leu)	MED1 (P854L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124848	NM_004774.4(MED1):c.2545C>G (p.Pro849Ala)	MED1 (P849A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124847	NM_004774.4(MED1):c.2423G>A (p.Arg808Gln)	MED1 (R808Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554918	NM_004774.4(MED1):c.2420T>C (p.Leu807Pro)	MED1 (L807P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293952	NM_004774.4(MED1):c.2416C>T (p.Pro806Ser)	MED1 (P806S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357351	NM_004774.4(MED1):c.2366A>C (p.Glu789Ala)	MED1 (E789A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208648	NM_004774.4(MED1):c.2204C>T (p.Thr735Met)	MED1 (T735M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 975292	NM_004774.4(MED1):c.2195C>T (p.Thr732Met)	MED1 (T732M)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 3293954	NM_004774.4(MED1):c.2176G>A (p.Val726Ile)	MED1 (V726I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462532	NM_004774.4(MED1):c.2105A>C (p.His702Pro)	MED1 (H702P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352154	NM_004774.4(MED1):c.2020G>A (p.Gly674Ser)	MED1 (G674S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293956	NM_004774.4(MED1):c.1849A>G (p.Thr617Ala)	MED1 (T617A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488316	NM_004774.4(MED1):c.1778A>T (p.Glu593Val)	MED1 (E593V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293949	NM_004774.4(MED1):c.1703C>T (p.Pro568Leu)	MED1 (P568L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465942	NM_004774.4(MED1):c.1666C>A (p.Pro556Thr)	MED1 (P556T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293951	NM_004774.4(MED1):c.1163T>C (p.Leu388Pro)	MED1 (L388P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 975294	NM_004774.4(MED1):c.1113G>T (p.Gln371His)	MED1 (Q371H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787452	NM_004774.4(MED1):c.1053C>T (p.Asp351=)	MED1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2294368	NM_004774.4(MED1):c.970T>G (p.Cys324Gly)	MED1 (C324G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647715	NM_004774.4(MED1):c.795G>A (p.Val265=)	MED1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2525440	NM_004774.4(MED1):c.779A>G (p.Glu260Gly)	MED1 (E260G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 975290	NM_004774.4(MED1):c.763G>A (p.Ala255Thr)	MED1 (A255T)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 2395519	NM_004774.4(MED1):c.757A>G (p.Met253Val)	MED1 (M253V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3351571	NM_004774.4(MED1):c.746G>C (p.Arg249Pro)	MED1 (R249P)	Single nucleotide variant (missense variant)	MED1-related condition	GLikely benign
Select item 3293947	NM_004774.4(MED1):c.664C>A (p.Leu222Met)	MED1 (L222M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 975293	NM_004774.4(MED1):c.638C>T (p.Pro213Leu)	MED1 (P213L)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 161624	NM_004774.4(MED1):c.632T>G (p.Leu211Arg)	MED1 (L211R)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2476387	NM_004774.4(MED1):c.617G>C (p.Gly206Ala)	MED1 (G206A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526367	NM_004774.4(MED1):c.604A>G (p.Lys202Glu)	MED1 (K202E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 975289	NM_004774.4(MED1):c.429-7C>T	MED1	Single nucleotide variant (intron variant)	Intellectual disability	GLikely benign
Select item 2258567	NM_004774.4(MED1):c.392A>C (p.Asn131Thr)	MED1 (N131T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611580	NM_004774.4(MED1):c.372A>C (p.Lys124Asn)	MED1 (K124N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293944	NM_004774.4(MED1):c.355C>G (p.Gln119Glu)	MED1 (Q119E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3354343	NM_004774.4(MED1):c.305del (p.Tyr102fs)	MED1 (Y102fs)	Deletion (frameshift variant)	MED1-related condition	GUncertain significance
Select item 3124846	NM_004774.4(MED1):c.223C>T (p.Pro75Ser)	MED1 (P75S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556624	NM_004774.4(MED1):c.26A>G (p.Glu9Gly)	MED1 (E9G)	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 688925	GRCh37/hg19 17q12(chr17:37190609-37868002)x3	ARL5C, CACNB1 +13 more	Copy number gain	not provided	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 443556	GRCh37/hg19 17q12(chr17:37313691-37868516)x3	ARL5C, CACNB1 +12 more	Copy number gain	See cases	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 395132	GRCh37/hg19 17q12(chr17:37381717-37596822)x3	FBXL20, MED1 +1 more	Copy number gain	See cases	GBenign

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Items: 86