26320[HGNC] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 58745	GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1	LOC130004132, LOC130004133 +150 more	Copy number loss	See cases	GPathogenic
Select item 786165	NM_001007273.2(DUSP13B):c.143C>T (p.Ala48Val)	DUSP13B, SAMD8 (A48V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 780870	NM_001007273.2(DUSP13B):c.105C>T (p.Val35=)	DUSP13B, SAMD8	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2640609	NM_001007273.2(DUSP13B):c.-153C>G	DUSP13A, DUSP13B +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3157703	NM_001174156.2(SAMD8):c.28C>T (p.Arg10Cys)	SAMD8 (R10C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394709	NM_001174156.2(SAMD8):c.66G>C (p.Lys22Asn)	SAMD8 (K22N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463698	NM_001174156.2(SAMD8):c.179A>G (p.Lys60Arg)	SAMD8 (K60R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157702	NM_001174156.2(SAMD8):c.255G>T (p.Glu85Asp)	SAMD8 (E85D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157704	NM_001174156.2(SAMD8):c.359A>G (p.Asp120Gly)	SAMD8 (D120G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316108	NM_001174156.2(SAMD8):c.679A>G (p.Ile227Val)	SAMD8 (I227V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157705	NM_001174156.2(SAMD8):c.847T>C (p.Phe283Leu)	SAMD8 (F283L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464349	NM_001174156.2(SAMD8):c.1115A>G (p.Tyr372Cys)	SAMD8 (Y372C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3316107	NM_001174156.2(SAMD8):c.1172A>G (p.Asn391Ser)	SAMD8 (N391S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552425	NM_001174156.2(SAMD8):c.1180G>A (p.Gly394Ser)	SAMD8 (G394S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157701	NM_001174156.2(SAMD8):c.1204T>C (p.Trp402Arg)	SAMD8 (W402R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063159	GRCh37/hg19 10q22.2(chr10:76780949-77088796)x3	COMTD1, DUSP13B +4 more	Copy number gain	not specified	GUncertain significance
Select item 3063152	GRCh37/hg19 10q22.2(chr10:76733580-77200441)x3	COMTD1, DUSP13B +5 more	Copy number gain	not specified	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2425798	NC_000010.10:g.(?_76736352)_(77198536_?)dup	COMTD1, DUSP13B +5 more	Duplication	Genitopatellar syndrome	GLikely benign
Select item 2425796	NC_000010.10:g.(?_75671314)_(79799964_?)dup	ADK, AP3M1 +15 more	Duplication	Genitopatellar syndrome	GUncertain significance
Select item 2425795	NC_000010.10:g.(?_76349020)_(78317046_?)del	ADK, COMTD1 +7 more	Deletion	Genitopatellar syndrome	GPathogenic
Select item 1809184	GRCh37/hg19 10q22.2(chr10:76763852-77101087)x3	COMTD1, DUSP13B +4 more	Copy number gain	not provided	GUncertain significance
Select item 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 815360	GRCh37/hg19 10q22.2(chr10:76774010-77101087)x3	COMTD1, DUSP13B +4 more	Copy number gain	not provided	GUncertain significance
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 563702	GRCh37/hg19 10q22.2(chr10:76779297-76888826)x1	DUSP13B, DUSP29 +2 more	Copy number loss	not provided	GUncertain significance
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 395153	GRCh37/hg19 10q22.2-22.3(chr10:75542067-79428995)x1	ADK, AP3M1 +16 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic

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Items: 36