NKX2-8[gene] - ClinVar

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

Search results

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 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 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	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 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	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 58523	GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3	INSM2, KLHL28 +237 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 154047	GRCh38/hg38 14q13.1-21.1(chr14:33880412-42359485)x1	BAZ1A, BAZ1A-AS1 +156 more	Copy number loss	See cases	GPathogenic
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 154357	GRCh38/hg38 14q13.3(chr14:36191711-37228500)x3	LOC108281111, LOC110120901 +19 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 150975	GRCh38/hg38 14q13.3(chr14:36484306-36677450)x3	LOC108281111, LOC110121326 +6 more	Copy number gain	See cases	GLikely benign
Select item 151241	GRCh38/hg38 14q13.3(chr14:36533448-37341419)x1	LOC108281111, LOC110120902 +10 more	Copy number loss	See cases	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 779957	NM_014360.4(NKX2-8):c.78G>C (p.Pro26=)	NKX2-8	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 768648	NM_014360.4(NKX2-8):c.69A>G (p.Gln23=)	NKX2-8	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 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 8972	NC_000014.8:g.(36407609_36463186)_(37638963_37670256)del	MBIP, MIPOL1 +6 more	Deletion	Benign hereditary chorea	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 71