12020[HGNC] - ClinVar

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Items: 42

	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 59682	GRCh38/hg38 7p12.1-q11.22(chr7:53274059-68576213)x3	ASL, CCT6A +229 more	Copy number gain	See cases	GPathogenic
Select item 57078	GRCh38/hg38 7q11.21-11.22(chr7:62570287-67823956)x3	ASL, CICP24 +114 more	Copy number gain	See cases	GPathogenic
Select item 154461	GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1	LOC129998564, LOC129998565 +351 more	Copy number loss	See cases	GPathogenic
Select item 155382	GRCh38/hg38 7q11.21(chr7:62977012-66848675)	ASL, CICP24 +91 more	Copy number gain	See cases	GLikely pathogenic
Select item 154104	GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3	ABHD11, ABHD11-AS1 +350 more	Copy number gain	See cases	GPathogenic
Select item 57022	GRCh38/hg38 7q11.21-11.22(chr7:64657050-72243063)x1	ASL, GALNT17 +158 more	Copy number loss	See cases	GPathogenic
Select item 150828	GRCh38/hg38 7q11.21(chr7:65835271-66837033)x3	ASL, CRCP +35 more	Copy number gain	See cases	GLikely benign
Select item 2289025	NM_003596.4(TPST1):c.5T>C (p.Val2Ala)	TPST1 (V2A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611908	NM_003596.4(TPST1):c.101G>A (p.Arg34Gln)	TPST1 (R34Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532449	NM_003596.4(TPST1):c.112C>T (p.Arg38Cys)	TPST1 (R38C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313266	NM_003596.4(TPST1):c.113G>A (p.Arg38His)	TPST1 (R38H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250115	NM_003596.4(TPST1):c.125T>A (p.Val42Asp)	TPST1 (V42D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374320	NM_003596.4(TPST1):c.137G>A (p.Ser46Asn)	TPST1 (S46N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217656	NM_003596.4(TPST1):c.202G>T (p.Asp68Tyr)	TPST1 (D68Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181685	NM_003596.4(TPST1):c.281A>G (p.Asp94Gly)	TPST1 (D94G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181686	NM_003596.4(TPST1):c.368G>A (p.Arg123His)	TPST1 (R123H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360322	NM_003596.4(TPST1):c.377A>T (p.Glu126Val)	TPST1 (E126V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593680	NM_003596.4(TPST1):c.527A>G (p.Asn176Ser)	TPST1 (N176S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267304	NM_003596.4(TPST1):c.544A>G (p.Met182Val)	TPST1 (M182V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328362	NM_003596.4(TPST1):c.559C>T (p.Arg187Trp)	TPST1 (R187W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335659	NM_003596.4(TPST1):c.560G>A (p.Arg187Gln)	TPST1 (R187Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391576	NM_003596.4(TPST1):c.587G>A (p.Arg196Gln)	TPST1 (R196Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216475	NM_003596.4(TPST1):c.649C>T (p.Arg217Cys)	TPST1 (R217C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361377	NM_003596.4(TPST1):c.743G>A (p.Arg248Gln)	TPST1 (R248Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181687	NM_003596.4(TPST1):c.854G>A (p.Arg285Lys)	TPST1 (R285K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181688	NM_003596.4(TPST1):c.901A>G (p.Lys301Glu)	TPST1 (K301E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401713	NM_003596.4(TPST1):c.920C>T (p.Pro307Leu)	TPST1 (P307L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181684	NM_003596.4(TPST1):c.1079T>C (p.Leu360Pro)	TPST1 (L360P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685241	GRCh37/hg19 7q11.21(chr7:65521172-65716867)x1	ASL, CRCP +1 more	Copy number loss	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 1488532	NC_000007.13:g.(?_65556983)_(66460414_?)dup	SBDS, ASL +5 more	Duplication	Argininosuccinate lyase deficiency	GLikely pathogenic
Select item 1341099	GRCh37/hg19 7q11.21(chr7:65498293-65778546)x3	ASL, CRCP +1 more	Copy number gain	not provided	GLikely benign
Select item 1340571	GRCh37/hg19 7q11.21(chr7:64651626-66010636)x1	ASL, CRCP +4 more	Copy number loss	not provided	GUncertain significance
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 443613	GRCh37/hg19 7q11.21(chr7:65470729-66599216)x3	ASL, CRCP +6 more	Copy number gain	See cases	GUncertain significance
Select item 443521	GRCh37/hg19 7q11.21-11.22(chr7:63583563-71047246)x1	ASL, AUTS2 +20 more	Copy number loss	See cases	GPathogenic
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

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Items: 42