ClinVar for Gene (Select 79689) - ClinVar

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Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3323224	NM_024636.4(STEAP4):c.451C>T (p.Arg151Trp)	STEAP4 (R151W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323223	NM_024636.4(STEAP4):c.715G>A (p.Ala239Thr)	STEAP4 (A239T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323222	NM_024636.4(STEAP4):c.452G>A (p.Arg151Gln)	STEAP4 (R151Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323221	NM_024636.4(STEAP4):c.149G>A (p.Arg50Gln)	STEAP4 (R50Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171187	NM_024636.4(STEAP4):c.976G>A (p.Val326Ile)	STEAP4 (V326I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3171186	NM_024636.4(STEAP4):c.595A>G (p.Met199Val)	STEAP4 (M199V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171185	NM_024636.4(STEAP4):c.286C>T (p.Leu96Phe)	STEAP4 (L96F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171183	NM_024636.4(STEAP4):c.1180T>G (p.Cys394Gly)	STEAP4 (C218G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685043	GRCh37/hg19 7q21.12(chr7:87733697-88171508)x4	ADAM22, SRI +1 more	Copy number gain	not provided	GUncertain significance
Select item 2591579	NM_024636.4(STEAP4):c.997A>G (p.Lys333Glu)	STEAP4 (K157E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540990	NM_024636.4(STEAP4):c.710G>A (p.Arg237His)	STEAP4 (R237H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537545	NM_024636.4(STEAP4):c.463G>T (p.Val155Leu)	STEAP4 (V155L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524860	NM_024636.4(STEAP4):c.751G>A (p.Ala251Thr)	STEAP4 (A251T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514971	NM_024636.4(STEAP4):c.532A>G (p.Met178Val)	STEAP4 (M178V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510443	NM_024636.4(STEAP4):c.815G>A (p.Arg272Gln)	STEAP4 (R272Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471946	NM_024636.4(STEAP4):c.1232A>T (p.Asn411Ile)	STEAP4 (N235I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2410266	NM_024636.4(STEAP4):c.560A>G (p.Lys187Arg)	STEAP4 (K187R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396354	NM_024636.4(STEAP4):c.236T>C (p.Ile79Thr)	STEAP4 (I79T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367747	NM_024636.4(STEAP4):c.541G>C (p.Gly181Arg)	STEAP4 (G181R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316310	NM_024636.4(STEAP4):c.826T>C (p.Tyr276His)	STEAP4 (Y276H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266901	NM_024636.4(STEAP4):c.698A>C (p.Asp233Ala)	STEAP4 (D233A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240853	NM_024636.4(STEAP4):c.1249C>T (p.Pro417Ser)	STEAP4 (P417S +1 more)	Single nucleotide variant (missense variant)	not specified	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 790602	NM_024636.4(STEAP4):c.830G>A (p.Arg277His)	STEAP4 (R277H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 773216	NM_024636.4(STEAP4):c.953G>T (p.Arg318Leu)	STEAP4 (R318L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 722292	NM_024636.4(STEAP4):c.1140A>T (p.Arg380=)	STEAP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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
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 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59622	GRCh38/hg38 7q21.12-21.13(chr7:88131360-88520102)x3	ADAM22, LOC121740690 +6 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 42