ClinVar for Gene (Select 92181) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3185889	NM_152277.3(UBTD2):c.82C>T (p.Arg28Cys)	UBTD2 (R28C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185888	NM_152277.3(UBTD2):c.647A>G (p.Tyr216Cys)	UBTD2 (Y216C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185887	NM_152277.3(UBTD2):c.443C>A (p.Ser148Tyr)	UBTD2 (S148Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185885	NM_152277.3(UBTD2):c.109C>G (p.Pro37Ala)	UBTD2 (P37A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614579	NM_152277.3(UBTD2):c.140A>G (p.Asp47Gly)	UBTD2 (D47G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523837	NM_152277.3(UBTD2):c.452A>C (p.Glu151Ala)	UBTD2 (E151A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487431	NM_152277.3(UBTD2):c.133A>G (p.Met45Val)	UBTD2 (M45V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409856	NM_152277.3(UBTD2):c.295A>G (p.Thr99Ala)	UBTD2 (T99A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336326	NM_152277.3(UBTD2):c.440A>G (p.Asn147Ser)	UBTD2 (N147S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305355	NM_152277.3(UBTD2):c.695T>G (p.Val232Gly)	UBTD2 (V232G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228498	NM_152277.3(UBTD2):c.539G>A (p.Arg180Gln)	UBTD2 (R180Q)	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 1807670	GRCh37/hg19 5q35.1(chr5:171536921-171942436)x3	EFCAB9, LOC100288254 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1711097	GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	ADAMTS2, ARL10 +117 more	Copy number gain	See cases	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 1527205	GRCh37/hg19 5q34-35.1(chr5:164207156-172799124)	ATP6V0E1, BNIP1 +35 more	Copy number loss	not specified	GPathogenic
Select item 981214	GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3	ADAMTS2, ARL10 +115 more	Copy number gain	5q35 microduplication syndrome	GPathogenic
Select item 692223	GRCh37/hg19 5q34-35.2(chr5:166421173-173324843)x1	SPDL1, TENM2 +37 more	Copy number loss	Atrial septal defect 7	GPathogenic
Select item 684881	GRCh37/hg19 5q35.1(chr5:171171671-172022583)x1	STK10, UBTD2 +5 more	Copy number loss	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 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	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 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 28