STC2[gene] - ClinVar

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

Search results

Items: 33

	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 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 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 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 58395	GRCh38/hg38 5q35.1-35.2(chr5:172776798-174342969)x1	ATP6V0E1, BNIP1 +91 more	Copy number loss	See cases	GPathogenic
Select item 58396	GRCh38/hg38 5q35.1-35.2(chr5:172961091-175054665)x1	ATP6V0E1, BNIP1 +81 more	Copy number loss	See cases	GPathogenic
Select item 154580	GRCh38/hg38 5q35.1-35.2(chr5:173237772-176614618)x3	ARL10, BOD1 +131 more	Copy number gain	See cases	GPathogenic
Select item 2252707	NM_003714.3(STC2):c.805A>G (p.Asn269Asp)	LOC126807603, STC2 (N269D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323207	NM_003714.3(STC2):c.700C>T (p.Leu234Phe)	LOC126807603, STC2 (L234F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171159	NM_003714.3(STC2):c.548A>C (p.Glu183Ala)	STC2 (E183A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171158	NM_003714.3(STC2):c.505G>A (p.Glu169Lys)	STC2 (E169K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275061	NM_003714.3(STC2):c.257T>C (p.Met86Thr)	STC2 (M86T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613778	NM_003714.3(STC2):c.214G>A (p.Glu72Lys)	STC2 (E72K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411929	NM_003714.3(STC2):c.199G>A (p.Val67Met)	STC2 (V67M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732956	NM_003714.3(STC2):c.183C>T (p.Gly61=)	STC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2541456	NM_003714.3(STC2):c.23A>C (p.Gln8Pro)	STC2 (Q8P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265042	NM_003714.3(STC2):c.4T>G (p.Cys2Gly)	STC2 (C2G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685184	GRCh37/hg19 5q35.1-35.2(chr5:171836503-176517734)x1	ARL10, ATP6V0E1 +37 more	Copy number loss	not provided	GPathogenic
Select item 2425102	NC_000005.9:g.(?_172089144)_(172774583_?)del	ATP6V0E1, BNIP1 +8 more	Deletion	Atrial septal defect 7	GPathogenic
Select item 2423474	NC_000005.9:g.(?_171765373)_(172939426_?)dup	ATP6V0E1, BNIP1 +9 more	Duplication	not provided	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 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 685785	GRCh37/hg19 5q35.1(chr5:172657979-172782386)x3	NKX2-5, STC2	Copy number gain	not provided	GUncertain significance
Select item 442855	GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3	ADAMTS2, ARL10 +106 more	Copy number gain	See cases	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 33