3161[geneid] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	ADAM19, ADRA1B +295 more	Copy number loss	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	ADAM19, ADRA1B +280 more	Copy number loss	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 1707452	Single allele	ADRA1B, ATP10B +111 more	Duplication	not specified	GUncertain significance
Select item 149967	GRCh38/hg38 5q33.3-34(chr5:158941354-164386760)x1	GABRA1, GABRA6 +108 more	Copy number loss	See cases	GPathogenic
Select item 58393	GRCh38/hg38 5q34(chr5:161909955-164086917)x1	CCNG1, GABRG2 +17 more	Copy number loss	See cases	GPathogenic
Select item 2492974	NM_001142556.2(HMMR):c.86T>C (p.Leu29Ser)	HMMR (L29S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3106329	NM_001142556.2(HMMR):c.91G>T (p.Val31Leu)	HMMR (V31L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279428	NM_001142556.2(HMMR):c.140A>T (p.Gln47Leu)	HMMR (Q47L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2445307	NM_001142556.2(HMMR):c.167T>A (p.Val56Asp)	HMMR (V56D)	Single nucleotide variant (missense variant +1 more)	Ovarian cancer	GBenign
Select item 3106324	NM_001142556.2(HMMR):c.176A>T (p.Asp59Val)	HMMR (D59V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536882	NM_001142556.2(HMMR):c.248A>C (p.Lys83Thr)	HMMR (K83T +1 more)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 2469993	NM_001142556.2(HMMR):c.296G>A (p.Arg99His)	HMMR (R12H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106326	NM_001142556.2(HMMR):c.314G>A (p.Arg105Gln)	HMMR (R89Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3367069	NM_001142556.2(HMMR):c.319C>G (p.Gln107Glu)	HMMR (Q106E +3 more)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 2362825	NM_001142556.2(HMMR):c.406A>G (p.Thr136Ala)	HMMR (T120A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445380	NM_001142556.2(HMMR):c.452T>C (p.Leu151Pro)	HMMR (L135P +3 more)	Single nucleotide variant (missense variant)	Ovarian cancer +1 more	GConflicting classifications of pathogenicity
Select item 3284518	NM_001142556.2(HMMR):c.553A>G (p.Met185Val)	HMMR (M169V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467259	NM_001142556.2(HMMR):c.575T>C (p.Met192Thr)	HMMR (M105T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106327	NM_001142556.2(HMMR):c.580A>G (p.Met194Val)	HMMR (M178V +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3284515	NM_001142556.2(HMMR):c.610G>A (p.Glu204Lys)	HMMR (E188K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303522	NM_001142556.2(HMMR):c.613G>A (p.Glu205Lys)	HMMR (E118K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463966	NM_001142556.2(HMMR):c.620A>G (p.Gln207Arg)	HMMR (Q206R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106328	NM_001142556.2(HMMR):c.715G>A (p.Glu239Lys)	HMMR (E238K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1802240	NM_001142556.2(HMMR):c.769C>T (p.Gln257Ter)	HMMR (Q170* +3 more)	Single nucleotide variant (nonsense)	Familial cancer of breast	GUncertain significance
Select item 931105	NM_001142556.2(HMMR):c.904+1G>T	HMMR	Single nucleotide variant (splice donor variant)	Familial cancer of breast	GUncertain significance
Select item 2244763	NM_001142556.2(HMMR):c.911A>G (p.His304Arg)	HMMR (H217R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284519	NM_001142556.2(HMMR):c.935A>G (p.Asn312Ser)	HMMR (N225S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106330	NM_001142556.2(HMMR):c.991C>G (p.Gln331Glu)	HMMR (Q244E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463262	NM_001142556.2(HMMR):c.997C>T (p.Arg333Cys)	HMMR (R317C +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2454570	NM_001142556.2(HMMR):c.1064C>T (p.Ser355Leu)	HMMR (S268L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284516	NM_001142556.2(HMMR):c.1087T>C (p.Ser363Pro)	HMMR (S347P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261161	NM_001142556.2(HMMR):c.1104G>T (p.Met368Ile)	HMMR (M281I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1050123	NM_001142556.2(HMMR):c.1128G>C (p.Glu376Asp)	HMMR (E289D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2258656	NM_001142556.2(HMMR):c.1335G>C (p.Lys445Asn)	HMMR (K445N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2585330	NM_001142556.2(HMMR):c.1360G>A (p.Glu454Lys)	HMMR (E454K +3 more)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 3284517	NM_001142556.2(HMMR):c.1373C>T (p.Ala458Val)	HMMR (A371V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656024	NM_001142556.2(HMMR):c.1395G>A (p.Ala465=)	HMMR, HMMR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2401113	NM_001142556.2(HMMR):c.1448A>G (p.Glu483Gly)	HMMR, HMMR-AS1 (E467G +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2388175	NM_001142556.2(HMMR):c.1453G>A (p.Ala485Thr)	HMMR, HMMR-AS1 (A398T +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3106323	NM_001142556.2(HMMR):c.1633C>T (p.Leu545Phe)	HMMR, HMMR-AS1 (L458F +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 792019	NM_001142556.2(HMMR):c.1643A>G (p.Gln548Arg)	HMMR, HMMR-AS1 (Q547R +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2324779	NM_001142556.2(HMMR):c.1646A>T (p.Glu549Val)	HMMR, HMMR-AS1 (E462V +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 792020	NM_001142556.2(HMMR):c.1672G>C (p.Asp558His)	HMMR, HMMR-AS1 (D471H +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2445300	NM_001142556.2(HMMR):c.1690G>A (p.Ala564Thr)	HMMR, HMMR-AS1 (A477T +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Ovarian cancer	GBenign
Select item 2324044	NM_001142556.2(HMMR):c.1731T>G (p.Ile577Met)	HMMR, HMMR-AS1 (I561M +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2473367	NM_001142556.2(HMMR):c.1742G>A (p.Arg581His)	HMMR, HMMR-AS1 (R494H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407812	NM_001142556.2(HMMR):c.1840G>A (p.Ala614Thr)	HMMR, HMMR-AS1 (A527T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339447	NM_001142556.2(HMMR):c.1851A>T (p.Glu617Asp)	HMMR, HMMR-AS1 (E601D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106325	NM_001142556.2(HMMR):c.1877A>G (p.Tyr626Cys)	HMMR, HMMR-AS1 (Y610C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1683760	NM_001142556.2(HMMR):c.1928T>C (p.Val643Ala)	HMMR, HMMR-AS1 (V556A +3 more)	Single nucleotide variant (missense variant)	Breast cancer, susceptibility to	GUncertain significance
Select item 2509629	NM_001142556.2(HMMR):c.1939G>A (p.Asp647Asn)	HMMR, HMMR-AS1 (D560N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2431655	NM_001142556.2(HMMR):c.1962+7A>G	HMMR, HMMR-AS1	Single nucleotide variant (intron variant)	Familial cancer of breast	GUncertain significance
Select item 2299603	NM_001142556.2(HMMR):c.1966G>T (p.Val656Leu)	HMMR, HMMR-AS1 (V569L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395235	NM_001142556.2(HMMR):c.2014A>G (p.Lys672Glu)	HMMR, HMMR-AS1 (K671E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608956	NM_001142556.2(HMMR):c.2036A>C (p.Lys679Thr)	HMMR, HMMR-AS1 (K663T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445322	NM_001142556.2(HMMR):c.2059G>T (p.Asp687Tyr)	HMMR, HMMR-AS1 (D600Y +3 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GLikely pathogenic
Select item 2261250	NM_001142556.2(HMMR):c.2071G>C (p.Ala691Pro)	HMMR, HMMR-AS1 (A691P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360693	NM_001142556.2(HMMR):c.2096A>G (p.Asn699Ser)	HMMR, HMMR-AS1 (N698S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879644	GRCh37/hg19 5q33.3-34(chr5:156786013-162945369)x1	PTTG1, UBLCP1 +29 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 929325	GRCh37/hg19 5q34(chr5:161880996-162958461)x3	CCNG1, HMMR +2 more	Copy number gain	See cases	GUncertain significance
Select item 814756	GRCh37/hg19 5q33.3-35.1(chr5:156347980-169959880)x1	ADAM19, ADRA1B +51 more	Copy number loss	not provided	GPathogenic
Select item 686758	GRCh37/hg19 5q34(chr5:162636748-163072415)x1	CCNG1, HMMR +2 more	Copy number loss	not provided	GUncertain significance
Select item 684880	GRCh37/hg19 5q33.3-35.1(chr5:156597181-171166353)x3	C5orf52, ADAM19 +51 more	Copy number gain	not provided	GPathogenic
Select item 563120	GRCh37/hg19 5q34(chr5:161650030-164111161)x3	HMMR, MAT2B +2 more	Copy number gain	not provided	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 253504	GRCh37/hg19 5q33.2-35.1(chr5:154886174-169757448)x1	ADAM19, ADRA1B +50 more	Copy number loss	See cases	GPathogenic

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Items: 74