ClinVar for Gene (Select 8614) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2685184	GRCh37/hg19 5q35.1-35.2(chr5:171836503-176517734)x1	ARL10, ATP6V0E1 +37 more	Copy number loss	not provided	GPathogenic
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 2541456	NM_003714.3(STC2):c.23A>C (p.Gln8Pro)	STC2 (Q8P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2411929	NM_003714.3(STC2):c.199G>A (p.Val67Met)	STC2 (V67M)	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 2265042	NM_003714.3(STC2):c.4T>G (p.Cys2Gly)	STC2 (C2G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 732956	NM_003714.3(STC2):c.183C>T (p.Gly61=)	STC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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
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 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 58396	GRCh38/hg38 5q35.1-35.2(chr5:172961091-175054665)x1	ATP6V0E1, BNIP1 +81 more	Copy number loss	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 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: 33