SRI[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 155204	GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1	LOC129998788, LOC129998789 +227 more	Copy number loss	See cases	GPathogenic
Select item 151098	GRCh38/hg38 7q21.12-21.2(chr7:87379476-91731873)x1	ABCB1, ABCB4 +78 more	Copy number loss	See cases	GLikely pathogenic
Select item 59622	GRCh38/hg38 7q21.12-21.13(chr7:88131360-88520102)x3	ADAM22, LOC121740690 +6 more	Copy number gain	See cases	GUncertain significance
Select item 1283535	NM_003130.4(SRI):c.*108T>C	SRI	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2408199	NM_003130.4(SRI):c.580T>C (p.Cys194Arg)	SRI (C179R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1227689	NM_003130.4(SRI):c.571-194C>T	SRI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3322644	NM_003130.4(SRI):c.472G>C (p.Asp158His)	SRI (D158H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481102	NM_003130.4(SRI):c.440G>A (p.Arg147Gln)	SRI (R147Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614741	NM_003130.4(SRI):c.421G>A (p.Val141Met)	SRI (V126M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169990	NM_003130.4(SRI):c.394A>G (p.Met132Val)	SRI (M117V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322645	NM_003130.4(SRI):c.347G>A (p.Arg116Lys)	SRI (R101K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322642	NM_003130.4(SRI):c.328A>G (p.Ile110Val)	SRI (I95V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322641	NM_003130.4(SRI):c.256A>C (p.Met86Leu)	SRI (M86L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1298261	NM_003130.4(SRI):c.250-83T>C	SRI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286151	NM_003130.4(SRI):c.250-245A>G	SRI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225315	NM_003130.4(SRI):c.249+33dup	SRI	Duplication (intron variant)	not provided	GBenign
Select item 3322640	NM_003130.4(SRI):c.241A>G (p.Met81Val)	SRI (M66V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322639	NM_003130.4(SRI):c.226C>T (p.Arg76Trp)	SRI (R76W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 225049	NM_003130.4(SRI):c.206-1G>A	SRI	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GPathogenic
Select item 1291047	NM_003130.4(SRI):c.206-23A>G	SRI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234720	NM_003130.4(SRI):c.136-5A>G	SRI, SRI-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277351	NM_003130.4(SRI):c.136-150A>C	SRI, SRI-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3322643	NM_003130.4(SRI):c.34G>A (p.Gly12Arg)	LOC129998765, SRI +1 more (G12R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1279695	NM_198901.2(SRI):c.7-1315G>C	LOC129998765, SRI +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271507	NM_198901.2(SRI):c.7-1322G>A	SRI, SRI-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262145	NM_198901.2(SRI):c.7-1417_7-1416del	SRI, SRI-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1253279	NM_198901.2(SRI):c.7-1446T>C	SRI, SRI-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281341	NC_000007.14:g.88227200A>G	LOC121740690, SRI +1 more	Single nucleotide variant	not provided	GBenign
Select item 2685043	GRCh37/hg19 7q21.12(chr7:87733697-88171508)x4	ADAM22, SRI +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808544	GRCh37/hg19 7q21.12(chr7:87379070-87880398)x3	ADAM22, DBF4 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527376	GRCh37/hg19 7q21.12(chr7:87733696-88171508)	ADAM22, SRI +1 more	Copy number gain	not specified	GUncertain significance
Select item 1527374	GRCh37/hg19 7q21.12-21.13(chr7:87482666-89449405)	ADAM22, DBF4 +5 more	Copy number loss	not specified	GUncertain significance
Select item 1527369	GRCh37/hg19 7q21.11-21.3(chr7:77821356-93340137)	ABCB1, ABCB4 +50 more	Copy number gain	not specified	GPathogenic
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 560111	Single allele	CACNA2D1, ERVW-1 +91 more	Deletion	not provided	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 221462	GRCh37/hg19 7q21.12-21.2(chr7:87840219-91707100)x3	STEAP4, TEX47 +11 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 44