ClinVar for Gene (Select 105370526) - ClinVar

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Links from Gene

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3105822	NM_001530.4(HIF1A):c.781G>A (p.Glu261Lys)	HIF1A, HIF1A-AS3 (E261K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105821	NM_001530.4(HIF1A):c.62A>G (p.Lys21Arg)	HIF1A, HIF1A-AS3 (K45R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105820	NM_001530.4(HIF1A):c.2438T>C (p.Leu813Pro)	HIF1A, HIF1A-AS2 +1 more (L813P +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3105819	NM_001530.4(HIF1A):c.2416A>G (p.Ile806Val)	HIF1A, HIF1A-AS3 (I830V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3105818	NM_001530.4(HIF1A):c.2077G>A (p.Val693Ile)	HIF1A, HIF1A-AS3 (V693I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105817	NM_001530.4(HIF1A):c.2011A>G (p.Arg671Gly)	HIF1A, HIF1A-AS3 (R695G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105816	NM_001530.4(HIF1A):c.1792A>C (p.Thr598Pro)	HIF1A, HIF1A-AS3 (T622P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105815	NM_001530.4(HIF1A):c.1788A>C (p.Gln596His)	HIF1A, HIF1A-AS3 (Q596H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105814	NM_001530.4(HIF1A):c.1766G>C (p.Ser589Thr)	HIF1A, HIF1A-AS3 (S613T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105813	NM_001530.4(HIF1A):c.1732G>A (p.Asp578Asn)	HIF1A, HIF1A-AS3 (D578N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105812	NM_001530.4(HIF1A):c.1631C>A (p.Thr544Lys)	HIF1A, HIF1A-AS3 (T544K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105811	NM_001530.4(HIF1A):c.1496C>T (p.Pro499Leu)	HIF1A, HIF1A-AS3 (P499L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105810	NM_001530.4(HIF1A):c.1471A>G (p.Met491Val)	HIF1A, HIF1A-AS3 (M515V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2920784	NM_001530.4(HIF1A):c.880+16G>T	HIF1A, HIF1A-AS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2920760	NM_001530.4(HIF1A):c.774-3C>T	HIF1A, HIF1A-AS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2920757	NM_001530.4(HIF1A):c.639G>A (p.Lys213=)	HIF1A, HIF1A-AS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2683253	NM_001530.4(HIF1A):c.1762G>A (p.Ala588Thr)	HIF1A, HIF1A-AS3 (A588T +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2644273	NM_001530.4(HIF1A):c.722C>A (p.Thr241Asn)	HIF1A, HIF1A-AS3 (T241N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2616224	NM_001530.4(HIF1A):c.1964C>T (p.Thr655Ile)	HIF1A, HIF1A-AS3 (T679I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2571397	NM_001530.4(HIF1A):c.1744C>T (p.Pro582Ser)	HIF1A, HIF1A-AS3 (P582S +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2557432	NM_001530.4(HIF1A):c.232T>A (p.Leu78Met)	HIF1A, HIF1A-AS3 (L102M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544927	NM_001530.4(HIF1A):c.1994G>A (p.Arg665Gln)	HIF1A, HIF1A-AS3 (R689Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515962	NM_001530.4(HIF1A):c.1289T>C (p.Leu430Ser)	HIF1A, HIF1A-AS3 (L454S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494263	NM_001530.4(HIF1A):c.2194G>A (p.Val732Ile)	HIF1A, HIF1A-AS3 (V732I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463296	NM_001530.4(HIF1A):c.868A>T (p.Thr290Ser)	HIF1A, HIF1A-AS3 (T290S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461193	NM_001530.4(HIF1A):c.1282G>A (p.Val428Ile)	HIF1A, HIF1A-AS3 (V452I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408751	NM_001530.4(HIF1A):c.1993C>T (p.Arg665Trp)	HIF1A, HIF1A-AS3 (R665W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403656	NM_001530.4(HIF1A):c.613A>G (p.Ser205Gly)	HIF1A, HIF1A-AS3 (S205G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399991	NM_001530.4(HIF1A):c.155C>T (p.Ser52Leu)	HIF1A, HIF1A-AS3 (S52L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390450	NM_001530.4(HIF1A):c.1065A>T (p.Gln355His)	HIF1A, HIF1A-AS3 (Q355H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368688	NM_001530.4(HIF1A):c.359T>C (p.Met120Thr)	HIF1A, HIF1A-AS3 (M144T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316631	NM_001530.4(HIF1A):c.180G>A (p.Met60Ile)	HIF1A, HIF1A-AS3 (M60I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310263	NM_001530.4(HIF1A):c.2411C>G (p.Ala804Gly)	HIF1A, HIF1A-AS3 (A804G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303521	NM_001530.4(HIF1A):c.121G>T (p.Ala41Ser)	HIF1A, HIF1A-AS3 (A65S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242060	NM_001530.4(HIF1A):c.1572T>G (p.Asp524Glu)	HIF1A, HIF1A-AS3 (D524E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235981	NM_001530.4(HIF1A):c.1573A>G (p.Ser525Gly)	HIF1A, HIF1A-AS3 (S525G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207111	NM_001530.4(HIF1A):c.1091T>C (p.Val364Ala)	HIF1A, HIF1A-AS3 (V364A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1803805	NM_001530.4(HIF1A):c.1369G>A (p.Glu457Lys)	HIF1A, HIF1A-AS3 (E457K +1 more)	Single nucleotide variant (missense variant)	Maffucci syndrome	GLikely pathogenic
Select item 1803804	NM_001530.4(HIF1A):c.2075C>G (p.Ser692Cys)	HIF1A, HIF1A-AS3 (S692C +1 more)	Single nucleotide variant (missense variant)	Enchondromatosis	GLikely pathogenic
Select item 1803803	NM_001530.4(HIF1A):c.1961C>T (p.Ala654Val)	HIF1A, HIF1A-AS3 (A654V +1 more)	Single nucleotide variant (missense variant)	Maffucci syndrome	GLikely pathogenic
Select item 1803802	NM_001530.4(HIF1A):c.1892G>A (p.Arg631His)	HIF1A, HIF1A-AS3 (R631H +1 more)	Single nucleotide variant (missense variant)	Enchondromatosis	GLikely pathogenic
Select item 1803800	NM_001530.4(HIF1A):c.644C>T (p.Pro215Leu)	HIF1A, HIF1A-AS3 (P215L +1 more)	Single nucleotide variant (missense variant)	Enchondromatosis	GLikely pathogenic
Select item 1803796	NM_001530.4(HIF1A):c.148G>C (p.Val50Leu)	HIF1A, HIF1A-AS3 (V50L +1 more)	Single nucleotide variant (missense variant)	Maffucci syndrome	GLikely pathogenic
Select item 988324	NM_001530.4(HIF1A):c.293G>A (p.Gly98Asp)	HIF1A, HIF1A-AS3 (G122D +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 782785	NM_001530.4(HIF1A):c.1264G>T (p.Asp422Tyr)	HIF1A, HIF1A-AS3 (D422Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 777435	NM_001530.4(HIF1A):c.1253C>T (p.Thr418Ile)	HIF1A, HIF1A-AS3 (T418I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 774490	NM_001530.4(HIF1A):c.1800A>T (p.Thr600=)	HIF1A, HIF1A-AS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 731118	NM_001530.4(HIF1A):c.780C>T (p.Thr260=)	HIF1A, HIF1A-AS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 731117	NM_001530.4(HIF1A):c.633G>A (p.Gly211=)	HIF1A, HIF1A-AS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 727387	NM_001530.4(HIF1A):c.881-4dup	HIF1A, HIF1A-AS3	Duplication (intron variant)	not provided	GBenign
Select item 727386	NM_001530.4(HIF1A):c.768T>C (p.Asp256=)	HIF1A, HIF1A-AS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 723203	NM_001530.4(HIF1A):c.1242C>G (p.Gly414=)	HIF1A, HIF1A-AS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 722908	NM_001530.4(HIF1A):c.1506C>T (p.Ser502=)	HIF1A, HIF1A-AS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 716776	NM_001530.4(HIF1A):c.1740G>A (p.Leu580=)	HIF1A, HIF1A-AS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 716592	NM_001530.4(HIF1A):c.1045G>A (p.Asp349Asn)	HIF1A, HIF1A-AS3 (D349N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 709474	NM_001530.4(HIF1A):c.2352G>A (p.Gly784=)	HIF1A, HIF1A-AS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 218593	NM_001530.4(HIF1A):c.2035C>G (p.Gln679Glu)	HIF1A, HIF1A-AS3 (Q679E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161843	NM_001530.4(HIF1A):c.700G>A (p.Glu234Lys)	HIF1A, HIF1A-AS3 (E234K +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 149300	GRCh38/hg38 14q23.1-23.2(chr14:57653413-64093528)x1	ACTR10, ARID4A +202 more	Copy number loss	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 more	Copy number loss	See cases	GPathogenic
Select item 57228	GRCh38/hg38 14q23.1-23.3(chr14:59917051-66750803)x1	LOC132090233, LOC132090234 +264 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 63