ClinVar for Gene (Select 56164) - ClinVar

Links from Gene

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3323302	NM_031414.5(STK31):c.223G>A (p.Val75Ile)	STK31 (V52I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323301	NM_031414.5(STK31):c.23C>A (p.Ser8Tyr)	STK31 (S8Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3323300	NM_031414.5(STK31):c.414T>G (p.Ser138Arg)	STK31 (S138R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323299	NM_031414.5(STK31):c.985T>A (p.Leu329Met)	STK31 (L329M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323298	NM_031414.5(STK31):c.2896G>C (p.Val966Leu)	STK31 (V943L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323297	NM_031414.5(STK31):c.2015C>T (p.Thr672Ile)	STK31 (T672I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323296	NM_031414.5(STK31):c.1649A>G (p.Asn550Ser)	STK31 (N550S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171344	NM_031414.5(STK31):c.874G>C (p.Gly292Arg)	STK31 (G292R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171342	NM_031414.5(STK31):c.3017G>A (p.Cys1006Tyr)	STK31 (C1006Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3171341	NM_031414.5(STK31):c.3011A>G (p.Asp1004Gly)	STK31 (D1004G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171340	NM_031414.5(STK31):c.3003G>C (p.Glu1001Asp)	STK31 (E1001D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171339	NM_031414.5(STK31):c.2810A>G (p.Lys937Arg)	STK31 (K937R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3171337	NM_031414.5(STK31):c.2570A>G (p.Gln857Arg)	STK31 (Q834R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171335	NM_031414.5(STK31):c.2073G>A (p.Met691Ile)	STK31 (M668I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171334	NM_031414.5(STK31):c.1903A>T (p.Thr635Ser)	STK31 (T612S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171333	NM_031414.5(STK31):c.1870C>T (p.Pro624Ser)	STK31 (P601S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171332	NM_031414.5(STK31):c.1757G>T (p.Ser586Ile)	STK31 (S586I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171330	NM_031414.5(STK31):c.1454C>A (p.Ala485Asp)	STK31 (A485D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171329	NM_031414.5(STK31):c.1141G>A (p.Asp381Asn)	STK31 (D381N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3171328	NM_031414.5(STK31):c.1085C>A (p.Thr362Asn)	STK31 (T339N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171327	NM_031414.5(STK31):c.1064C>T (p.Thr355Ile)	STK31 (T355I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171325	NM_031414.5(STK31):c.1052A>G (p.His351Arg)	STK31 (H328R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062983	GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1	ABCB5, CBX3 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062961	GRCh37/hg19 7p21.3-15.2(chr7:13107394-27514163)x1	ABCB5, AGMO +71 more	Copy number loss	not specified	GPathogenic
Select item 2657352	NM_031414.5(STK31):c.1153C>T (p.Arg385Cys)	STK31 (R362C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2657351	NM_031414.5(STK31):c.9C>A (p.Val3=)	STK31	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2597574	NM_031414.5(STK31):c.1621T>C (p.Ser541Pro)	STK31 (S518P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2589180	NM_031414.5(STK31):c.1521G>T (p.Glu507Asp)	STK31 (E484D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588191	NM_031414.5(STK31):c.158A>G (p.Asn53Ser)	STK31 (N30S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GLikely benign
Select item 2560792	NM_031414.5(STK31):c.2592C>A (p.Asn864Lys)	STK31 (N841K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557892	NM_031414.5(STK31):c.751A>G (p.Thr251Ala)	STK31 (T228A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2548158	NM_031414.5(STK31):c.738A>T (p.Arg246Ser)	STK31 (R223S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545850	NM_031414.5(STK31):c.2663T>C (p.Met888Thr)	STK31 (M888T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533832	NM_031414.5(STK31):c.1448G>A (p.Gly483Glu)	STK31 (G460E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530943	NM_031414.5(STK31):c.2206A>T (p.Met736Leu)	STK31 (M713L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527912	NM_031414.5(STK31):c.2659A>G (p.Met887Val)	STK31 (M864V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512481	NM_031414.5(STK31):c.2038C>G (p.Gln680Glu)	STK31 (Q680E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511042	NM_031414.5(STK31):c.2843A>G (p.Lys948Arg)	STK31 (K948R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510116	NM_031414.5(STK31):c.2668G>C (p.Gly890Arg)	STK31 (G890R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494467	NM_031414.5(STK31):c.2456C>G (p.Ala819Gly)	STK31 (A819G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490511	NM_031414.5(STK31):c.38C>T (p.Thr13Met)	STK31 (T13M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2483582	NM_031414.5(STK31):c.26G>A (p.Arg9Lys)	STK31 (R9K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2462443	NM_031414.5(STK31):c.314G>A (p.Ser105Asn)	STK31 (S82N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408903	NM_031414.5(STK31):c.1829T>C (p.Ile610Thr)	STK31 (I587T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369486	NM_031414.5(STK31):c.1399C>T (p.Arg467Cys)	STK31 (R444C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368576	NM_031414.5(STK31):c.1639G>A (p.Ala547Thr)	STK31 (A524T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2367459	NM_031414.5(STK31):c.1240A>T (p.Ile414Leu)	STK31 (I414L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360476	NM_031414.5(STK31):c.1552G>A (p.Ala518Thr)	STK31 (A518T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337169	NM_031414.5(STK31):c.2520G>C (p.Gln840His)	STK31 (Q817H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333049	NM_031414.5(STK31):c.946G>C (p.Glu316Gln)	STK31 (E293Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327394	NM_031414.5(STK31):c.652A>G (p.Thr218Ala)	STK31 (T195A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319147	NM_031414.5(STK31):c.2279A>C (p.Tyr760Ser)	STK31 (Y737S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305658	NM_031414.5(STK31):c.1976C>A (p.Pro659His)	STK31 (P659H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2296231	NM_031414.5(STK31):c.1019A>C (p.Gln340Pro)	STK31 (Q317P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257401	NM_031414.5(STK31):c.2722G>C (p.Gly908Arg)	STK31 (G908R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250006	NM_031414.5(STK31):c.23C>T (p.Ser8Phe)	STK31 (S8F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2237301	NM_031414.5(STK31):c.848G>C (p.Ser283Thr)	STK31 (S260T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237084	NM_031414.5(STK31):c.1864A>G (p.Lys622Glu)	STK31 (K622E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223714	NM_031414.5(STK31):c.2788A>G (p.Ile930Val)	STK31 (I930V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2204736	NM_031414.5(STK31):c.2384T>A (p.Phe795Tyr)	STK31 (F772Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204735	NM_031414.5(STK31):c.2383T>A (p.Phe795Ile)	STK31 (F772I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808336	GRCh37/hg19 7p15.3(chr7:23701717-24303807)x3	FAM221A, STK31	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 1527336	GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	ABCB5, ADCYAP1R1 +117 more	Copy number gain	not specified	GLikely pathogenic
Select item 1340893	GRCh37/hg19 7p15.3(chr7:23859333-23995552)x1	STK31	Copy number loss	not provided	GLikely benign
Select item 1340094	GRCh37/hg19 7p15.3(chr7:23583145-23848876)x3	CCDC126, FAM221A +1 more	Copy number gain	not provided	GUncertain significance
Select item 979765	GRCh37/hg19 7p15.3(chr7:23680359-23812283)x1	FAM221A, STK31 +1 more	Copy number loss	not provided	GUncertain significance
Select item 687684	GRCh37/hg19 7p15.3(chr7:23862444-23997775)x1	STK31	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 599189	NC_000007.13:g.23236782_30690453del7453672	NFE2L3, NOD1 +53 more	Deletion	Silver Russell Syndrome-related disorder	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 442824	GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	ABCB5, ACTB +158 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 395204	GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3	ABCB5, ADCYAP1R1 +119 more	Copy number gain	See cases	GPathogenic
Select item 253643	GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1	ADCYAP1R1, AQP1 +68 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 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 154641	GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1	LOC129998072, LOC129998073 +331 more	Copy number loss	See cases	GPathogenic
Select item 149206	GRCh38/hg38 7p15.3-15.2(chr7:23765383-26136158)x1	LOC129998102, LOC129998103 +73 more	Copy number loss	See cases	GLikely pathogenic
Select item 148859	GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1	ABCB5, AGMO +248 more	Copy number loss	See cases	GPathogenic
Select item 148838	GRCh38/hg38 7p15.3(chr7:23765383-23982353)x1	LOC129389768, LOC129998089 +1 more	Copy number loss	See cases	GUncertain significance
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	ABCB5, ADCYAP1R1 +387 more	Copy number loss	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	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 144929	GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1	LOC111365192, LOC111413014 +281 more	Copy number loss	See cases	GPathogenic
Select item 59679	GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3	ABCB5, AGR2 +287 more	Copy number gain	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 94