ClinVar for Gene (Select 26257) - ClinVar

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Links from Gene

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3299931	NM_014360.4(NKX2-8):c.604C>A (p.Pro202Thr)	NKX2-8 (P202T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299930	NM_014360.4(NKX2-8):c.543C>G (p.Cys181Trp)	NKX2-8 (C181W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299929	NM_014360.4(NKX2-8):c.698C>T (p.Ala233Val)	NKX2-8 (A233V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244100	NC_000014.8:g.(?_36986483)_(37203798_?)dup	NKX2-1, NKX2-8 +2 more	Duplication	not provided	GUncertain significance
Select item 3244062	NC_000014.8:g.(?_36986483)_(37489008_?)del	NKX2-1, NKX2-8 +2 more	Deletion	not provided	GPathogenic
Select item 3200378	NM_014360.4(NKX2-8):c.76C>T (p.Pro26Ser)	NKX2-8 (P26S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200377	NM_014360.4(NKX2-8):c.592T>C (p.Cys198Arg)	NKX2-8 (C198R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200376	NM_014360.4(NKX2-8):c.532G>A (p.Gly178Arg)	NKX2-8 (G178R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200375	NM_014360.4(NKX2-8):c.455A>C (p.Asp152Ala)	NKX2-8 (D152A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200374	NM_014360.4(NKX2-8):c.308T>C (p.Phe103Ser)	NKX2-8 (F103S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200373	NM_014360.4(NKX2-8):c.263G>A (p.Arg88Gln)	NKX2-8 (R88Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200372	NM_014360.4(NKX2-8):c.240C>G (p.Asp80Glu)	NKX2-8 (D80E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200371	NM_014360.4(NKX2-8):c.232G>A (p.Gly78Ser)	NKX2-8 (G78S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063324	GRCh37/hg19 14q12-21.2(chr14:29190489-45325177)x1	AKAP6, AP4S1 +48 more	Copy number loss	not specified	GPathogenic
Select item 2685482	GRCh37/hg19 14q13.1-13.3(chr14:34585231-37477843)x1	BAZ1A, BRMS1L +19 more	Copy number loss	not provided	GPathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2610917	NM_014360.4(NKX2-8):c.383T>A (p.Val128Asp)	NKX2-8 (V128D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558148	NM_014360.4(NKX2-8):c.242C>T (p.Ala81Val)	NKX2-8 (A81V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531857	NM_014360.4(NKX2-8):c.233G>A (p.Gly78Asp)	NKX2-8 (G78D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488713	NM_014360.4(NKX2-8):c.583C>A (p.Gln195Lys)	NKX2-8 (Q195K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485134	NM_014360.4(NKX2-8):c.694C>T (p.Pro232Ser)	NKX2-8 (P232S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400792	NM_014360.4(NKX2-8):c.712A>G (p.Asn238Asp)	NKX2-8 (N238D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384670	NM_014360.4(NKX2-8):c.149A>G (p.His50Arg)	NKX2-8 (H50R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375744	NM_014360.4(NKX2-8):c.697G>A (p.Ala233Thr)	NKX2-8 (A233T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374001	NM_014360.4(NKX2-8):c.446A>G (p.Glu149Gly)	NKX2-8 (E149G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340356	NM_014360.4(NKX2-8):c.674C>T (p.Ala225Val)	NKX2-8 (A225V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333363	NM_014360.4(NKX2-8):c.404A>G (p.His135Arg)	NKX2-8 (H135R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297281	NM_014360.4(NKX2-8):c.614C>T (p.Ala205Val)	NKX2-8 (A205V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241704	NM_014360.4(NKX2-8):c.638C>T (p.Ala213Val)	NKX2-8 (A213V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241556	NM_014360.4(NKX2-8):c.653C>G (p.Ser218Trp)	NKX2-8 (S218W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229301	NM_014360.4(NKX2-8):c.632A>G (p.Tyr211Cys)	NKX2-8 (Y211C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219632	NM_014360.4(NKX2-8):c.500G>A (p.Arg167His)	NKX2-8 (R167H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211760	NM_014360.4(NKX2-8):c.581C>A (p.Ala194Asp)	NKX2-8 (A194D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211759	NM_014360.4(NKX2-8):c.580G>A (p.Ala194Thr)	NKX2-8 (A194T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1527811	GRCh37/hg19 14q13.3(chr14:36933561-37247672)	NKX2-1, NKX2-8 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1527810	GRCh37/hg19 14q13.3(chr14:36924877-37247672)	NKX2-1, NKX2-8 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1527809	GRCh37/hg19 14q13.3-21.1(chr14:36862276-41597549)	CLEC14A, FBXO33 +14 more	Copy number loss	not specified	GPathogenic
Select item 1527808	GRCh37/hg19 14q13.2-21.1(chr14:35850213-40138562)	BRMS1L, CLEC14A +20 more	Copy number loss	not specified	GPathogenic
Select item 1445235	NC_000014.8:g.(?_36986483)_(37228504_?)dup	NKX2-1, NKX2-8 +2 more	Duplication	not provided	GUncertain significance
Select item 1047865	GRCh37/hg19 14q13.1-21.2(chr14:33608925-44570367)	BAZ1A, BRMS1L +33 more	Copy number loss	Poor motor coordination	GPathogenic
Select item 980483	GRCh37/hg19 14q13.3(chr14:36969461-37264529)x1	NKX2-1, NKX2-8 +3 more	Copy number loss	not provided	GPathogenic
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815639	GRCh37/hg19 14q13.3-21.1(chr14:36830396-42541277)x1	CLEC14A, FBXO33 +15 more	Copy number loss	not provided	GPathogenic
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 779957	NM_014360.4(NKX2-8):c.78G>C (p.Pro26=)	NKX2-8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768648	NM_014360.4(NKX2-8):c.69A>G (p.Gln23=)	NKX2-8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 686039	GRCh37/hg19 14q13.3(chr14:36924877-37254779)x3	NKX2-1, NKX2-8 +3 more	Copy number gain	not provided	GUncertain significance
Select item 685164	GRCh37/hg19 14q13.3(chr14:36923328-37254779)x3	NKX2-1, NKX2-8 +3 more	Copy number gain	not provided	GUncertain significance
Select item 564135	GRCh37/hg19 14q13.2-21.2(chr14:35934503-47120961)x1	BRMS1L, C14orf28 +29 more	Copy number loss	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 154996	GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1	LOC126861917, LOC126861918 +225 more	Copy number loss	See cases	GPathogenic
Select item 154357	GRCh38/hg38 14q13.3(chr14:36191711-37228500)x3	LOC108281111, LOC110120901 +19 more	Copy number gain	See cases	GPathogenic
Select item 154047	GRCh38/hg38 14q13.1-21.1(chr14:33880412-42359485)x1	BAZ1A, BAZ1A-AS1 +156 more	Copy number loss	See cases	GPathogenic
Select item 151241	GRCh38/hg38 14q13.3(chr14:36533448-37341419)x1	LOC108281111, LOC110120902 +10 more	Copy number loss	See cases	GPathogenic
Select item 150975	GRCh38/hg38 14q13.3(chr14:36484306-36677450)x3	LOC108281111, LOC110121326 +6 more	Copy number gain	See cases	GLikely benign
Select item 148775	GRCh38/hg38 14q13.2-21.2(chr14:35068276-43994777)x1	BRMS1L, CLEC14A +113 more	Copy number loss	See cases	GPathogenic
Select item 147567	GRCh38/hg38 14q13.2-13.3(chr14:35514078-36814016)x1	BRMS1L, INSM2 +26 more	Copy number loss	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 146008	GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1	AKAP6, AP4S1 +179 more	Copy number loss	See cases	GPathogenic
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 58523	GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3	INSM2, KLHL28 +237 more	Copy number gain	See cases	GPathogenic
Select item 57775	GRCh38/hg38 14q13.3-21.1(chr14:36434568-41102476)x1	CLEC14A, FBXO33 +62 more	Copy number loss	See cases	GPathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 8972	NC_000014.8:g.(36407609_36463186)_(37638963_37670256)del	MBIP, MIPOL1 +6 more	Deletion	Benign hereditary chorea	GPathogenic

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Links from Gene

Items: 71