HMMR-AS1[gene] - ClinVar

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Items: 29

	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 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

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Items: 29