ClinVar for Gene (Select 9263) - ClinVar

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

Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3323282	NM_004760.3(STK17A):c.23G>A (p.Gly8Asp)	LOC129998316, STK17A (G8D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171290	NM_004760.3(STK17A):c.797A>G (p.Asn266Ser)	COA1, STK17A (N266S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171289	NM_004760.3(STK17A):c.737T>C (p.Met246Thr)	COA1, STK17A (M246T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171288	NM_004760.3(STK17A):c.613A>C (p.Ile205Leu)	COA1, STK17A (I205L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171287	NM_004760.3(STK17A):c.538C>G (p.Arg180Gly)	STK17A (R180G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171286	NM_004760.3(STK17A):c.507G>C (p.Gln169His)	STK17A (Q169H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171285	NM_004760.3(STK17A):c.305G>A (p.Arg102Gln)	STK17A (R102Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171284	NM_004760.3(STK17A):c.28G>T (p.Gly10Cys)	LOC129998316, STK17A (G10C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171282	NM_004760.3(STK17A):c.1202A>C (p.Glu401Ala)	COA1, STK17A (E401A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171281	NM_004760.3(STK17A):c.113A>G (p.Gln38Arg)	LOC129998316, STK17A (Q38R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685239	GRCh37/hg19 7p14.1-12.3(chr7:42516660-46202495)x1	ADCY1, AEBP1 +38 more	Copy number loss	not provided	GPathogenic
Select item 2620433	NM_004760.3(STK17A):c.188C>T (p.Pro63Leu)	LOC129998316, STK17A (P63L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549879	NM_004760.3(STK17A):c.955C>T (p.Pro319Ser)	COA1, STK17A (P319S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2533739	NM_004760.3(STK17A):c.761A>G (p.Tyr254Cys)	COA1, STK17A (Y254C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518935	NM_004760.3(STK17A):c.539G>A (p.Arg180His)	STK17A (R180H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2518917	NM_004760.3(STK17A):c.137T>C (p.Ile46Thr)	LOC129998316, STK17A (I46T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479885	NM_004760.3(STK17A):c.814T>C (p.Phe272Leu)	COA1, STK17A (F272L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458122	NM_004760.3(STK17A):c.611A>T (p.Lys204Met)	COA1, STK17A (K204M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315272	NM_004760.3(STK17A):c.509T>C (p.Ile170Thr)	STK17A (I170T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306714	NM_004760.3(STK17A):c.798T>A (p.Asn266Lys)	COA1, STK17A (N266K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251656	NM_004760.3(STK17A):c.520G>A (p.Val174Ile)	STK17A (V174I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240468	NM_004760.3(STK17A):c.1136G>C (p.Gly379Ala)	COA1, STK17A (G379A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2207784	NM_004760.3(STK17A):c.364A>G (p.Ile122Val)	STK17A (I122V)	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 1527356	GRCh37/hg19 7p14.1-12.2(chr7:40778439-50228656)	ABCA13, ADCY1 +53 more	Copy number loss	not specified	GPathogenic
Select item 1047889	GRCh37/hg19 7p13-12.2(chr7:43341583-50171623)	MRPS24, MYL7 +46 more	Copy number loss	Intracranial hemorrhage	GPathogenic
Select item 1047885	GRCh37/hg19 7p14.1-12.3(chr7:41124364-47945566)	ADCY1, AEBP1 +44 more	Copy number loss	Neurodevelopmental delay +2 more	GPathogenic
Select item 814968	GRCh37/hg19 7p13(chr7:43534614-43819386)x3	BLVRA, STK17A +2 more	Copy number gain	not provided	GUncertain significance
Select item 769710	NM_004760.3(STK17A):c.705T>C (p.Leu235=)	COA1, STK17A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717858	NM_004760.3(STK17A):c.503G>A (p.Arg168Gln)	STK17A (R168Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 687609	GRCh37/hg19 7p14.1-13(chr7:42417642-43658492)x3	C7orf25, HECW1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 687554	GRCh37/hg19 7p14.1-13(chr7:42417642-43658492)x3	C7orf25, HECW1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 687540	GRCh37/hg19 7p14.1-13(chr7:42421780-43664397)x3	C7orf25, HECW1 +4 more	Copy number gain	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 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 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	RP9, SCIN +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395336	GRCh37/hg19 7p14.3-13(chr7:32911003-44576005)x1	AEBP1, AMPH +54 more	Copy number loss	See cases	GPathogenic
Select item 394005	GRCh37/hg19 7p14.1-12.3(chr7:40350383-47034422)x1	ZMIZ2, ADCY1 +41 more	Copy number loss	See cases	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 154192	GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1	AEBP1, AMPH +288 more	Copy number loss	See cases	GPathogenic
Select item 150967	GRCh38/hg38 7p14.1-13(chr7:42452844-43608265)x3	C7orf25, HECW1 +27 more	Copy number gain	See cases	GUncertain significance
Select item 148230	GRCh38/hg38 7p14.1-13(chr7:39063400-45363096)x1	LOC129998373, LOC129998374 +231 more	Copy number loss	See cases	GPathogenic
Select item 148053	GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1	LOC121175342, LOC121740678 +380 more	Copy number loss	See cases	GPathogenic
Select item 147754	GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1	ABCA13, ADCY1 +317 more	Copy number loss	See cases	GPathogenic
Select item 146855	GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1	ABCA13, ADCY1 +426 more	Copy number loss	See cases	GPathogenic
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 59681	GRCh38/hg38 7p14.1-13(chr7:42388724-43606751)x3	C7orf25, HECW1 +27 more	Copy number gain	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 59304	GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1	SNORA5A, SNORA5B +212 more	Copy number loss	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

Links from Gene

Items: 52