ClinVar for Gene (Select 9443) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3294080	NM_004270.5(MED7):c.101C>T (p.Pro34Leu)	MED7 (P34L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294079	NM_004270.5(MED7):c.565A>G (p.Met189Val)	MED7 (M189V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125085	NM_004270.5(MED7):c.695G>A (p.Arg232Lys)	MED7 (R232K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125084	NM_004270.5(MED7):c.436C>T (p.Arg146Trp)	MED7 (R146W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125083	NM_004270.5(MED7):c.413T>C (p.Met138Thr)	MED7 (M138T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125082	NM_004270.5(MED7):c.377A>T (p.Tyr126Phe)	MED7 (Y126F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605748	NM_004270.5(MED7):c.430C>T (p.Arg144Cys)	MED7 (R144C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483202	NM_004270.5(MED7):c.599A>G (p.Gln200Arg)	MED7 (Q200R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425365	NC_000005.9:g.(?_155338082)_(156899968_?)dup	CYFIP2, FNDC9 +8 more	Duplication	Lymphoproliferative syndrome 1	GUncertain significance
Select item 2425364	NC_000005.9:g.(?_155338082)_(156899968_?)del	CYFIP2, FNDC9 +8 more	Deletion	Lymphoproliferative syndrome 1	GPathogenic
Select item 2358195	NM_004270.5(MED7):c.443A>G (p.Glu148Gly)	MED7 (E148G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304212	NM_004270.5(MED7):c.355G>C (p.Val119Leu)	MED7 (V119L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210744	NM_004270.5(MED7):c.50A>G (p.Tyr17Cys)	MED7 (Y17C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204268	NM_004270.5(MED7):c.444A>T (p.Glu148Asp)	MED7 (E148D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1807669	GRCh37/hg19 5q33.3(chr5:156486127-156930814)x3	ADAM19, CYFIP2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1481597	NC_000005.9:g.(?_155935591)_(156899968_?)del	CYFIP2, FNDC9 +8 more	Deletion	not provided	GUncertain significance
Select item 1339784	GRCh37/hg19 5q33.3-34(chr5:155970607-162450579)x1	ADAM19, ADRA1B +33 more	Copy number loss	not provided	Gnot provided
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 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
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	ADAM19, ADRA1B +295 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 59473	GRCh38/hg38 5q33.3(chr5:156991620-157210423)x3	GARIN3, HAVCR1 +10 more	Copy number gain	See cases	GUncertain significance
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	ADAM19, ADRA1B +280 more	Copy number loss	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 31