28982[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 1338832	GRCh38/hg38 1q32.3(chr1:212337801-213362035)	LOC122149494, LOC122149495 +66 more	Copy number loss	Diaphragmatic hernia	GUncertain significance
Select item 295306	NM_014053.3(FLVCR1):c.-181A>G	FLVCR1	Single nucleotide variant	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 876706	NM_014053.4(FLVCR1):c.-168C>G	FLVCR1	Single nucleotide variant (5 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 876707	NM_014053.4(FLVCR1):c.-166G>C	FLVCR1	Single nucleotide variant (5 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 295307	NM_014053.4(FLVCR1):c.-156del	FLVCR1	Deletion (5 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome +1 more	GUncertain significance
Select item 876708	NM_014053.4(FLVCR1):c.-154G>T	FLVCR1	Single nucleotide variant (5 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 876709	NM_014053.4(FLVCR1):c.-104G>A	FLVCR1	Single nucleotide variant (5 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 295308	NM_014053.4(FLVCR1):c.-87G>A	FLVCR1	Single nucleotide variant (5 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GLikely benign
Select item 295309	NM_014053.4(FLVCR1):c.-86C>T	FLVCR1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 295310	NM_014053.4(FLVCR1):c.-36G>A	FLVCR1, LOC129932485	Single nucleotide variant (5 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 585883	NM_014053.4(FLVCR1):c.-7C>T	FLVCR1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 521372	NM_014053.4(FLVCR1):c.2T>C (p.Met1Thr)	FLVCR1 (M1T)	Single nucleotide variant (missense variant +1 more)	Posterior column ataxia-retinitis pigmentosa syndrome +2 more	GPathogenic/Likely pathogenic
Select item 521373	NM_014053.4(FLVCR1):c.3G>T (p.Met1Ile)	FLVCR1 (M1I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GPathogenic
Select item 1124244	NM_014053.4(FLVCR1):c.6G>A (p.Ala2=)	FLVCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 521374	NM_014053.4(FLVCR1):c.7C>T (p.Arg3Trp)	FLVCR1 (R3W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1535383	NM_014053.4(FLVCR1):c.9G>C (p.Arg3=)	FLVCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1575618	NM_014053.4(FLVCR1):c.15C>T (p.Asp5=)	FLVCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2018802	NM_014053.4(FLVCR1):c.18T>C (p.Asp6=)	FLVCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 994877	NM_014053.4(FLVCR1):c.18T>A (p.Asp6Glu)	FLVCR1 (D6E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1377362	NM_014053.4(FLVCR1):c.28del (p.Ala10fs)	FLVCR1 (A10fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 865989	NM_014053.4(FLVCR1):c.25G>A (p.Gly9Arg)	FLVCR1 (G9R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 851111	NM_014053.4(FLVCR1):c.26G>A (p.Gly9Glu)	FLVCR1 (G9E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 806344	NM_014053.4(FLVCR1):c.30G>A (p.Ala10=)	FLVCR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 835909	NM_014053.4(FLVCR1):c.40C>T (p.Pro14Ser)	FLVCR1 (P14S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 295311	NM_014053.4(FLVCR1):c.42C>T (p.Pro14=)	FLVCR1	Single nucleotide variant (synonymous variant)	Posterior column ataxia-retinitis pigmentosa syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1350795	NM_014053.4(FLVCR1):c.49C>T (p.Pro17Ser)	FLVCR1 (P17S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 804813	NM_014053.4(FLVCR1):c.49C>G (p.Pro17Ala)	FLVCR1 (P17A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 295312	NM_014053.4(FLVCR1):c.51G>C (p.Pro17=)	FLVCR1	Single nucleotide variant (synonymous variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 1713737	NM_014053.4(FLVCR1):c.55G>C (p.Ala19Pro)	FLVCR1 (A19P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1647019	NM_014053.4(FLVCR1):c.69C>G (p.Leu23=)	FLVCR1, LOC129932486	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 735691	NM_014053.4(FLVCR1):c.69C>T (p.Leu23=)	FLVCR1, LOC129932486	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 804814	NM_014053.4(FLVCR1):c.71C>T (p.Pro24Leu)	FLVCR1, LOC129932486 (P24L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2047050	NM_014053.4(FLVCR1):c.72G>A (p.Pro24=)	FLVCR1, LOC129932486	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1102544	NM_014053.4(FLVCR1):c.75G>A (p.Leu25=)	FLVCR1, LOC129932486	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2552887	NM_014053.4(FLVCR1):c.77C>T (p.Pro26Leu)	FLVCR1, LOC129932486 (P26L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1959769	NM_014053.4(FLVCR1):c.78G>T (p.Pro26=)	FLVCR1, LOC129932486	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1640727	NM_014053.4(FLVCR1):c.79A>C (p.Arg27=)	FLVCR1, LOC129932486	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 873876	NM_014053.4(FLVCR1):c.82G>A (p.Gly28Ser)	FLVCR1, LOC129932486 (G28S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2117100	NM_014053.4(FLVCR1):c.83G>A (p.Gly28Asp)	FLVCR1, LOC129932486 (G28D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2129730	NM_014053.4(FLVCR1):c.84C>A (p.Gly28=)	FLVCR1, LOC129932486	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 617855	NM_014053.4(FLVCR1):c.87G>C (p.Ala29=)	FLVCR1, LOC129932486	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely pathogenic
Select item 2684197	NM_014053.4(FLVCR1):c.88C>T (p.Pro30Ser)	FLVCR1, LOC129932486 (P30S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3347587	NM_014053.4(FLVCR1):c.93T>C (p.Val31=)	FLVCR1, LOC129932486	Single nucleotide variant (synonymous variant)	FLVCR1-related disorder	GLikely benign
Select item 1630783	NM_014053.4(FLVCR1):c.105C>T (p.Ser35=)	FLVCR1, LOC129932486	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1003452	NM_014053.4(FLVCR1):c.112C>G (p.Leu38Val)	FLVCR1, LOC129932486 (L38V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2056338	NM_014053.4(FLVCR1):c.114G>A (p.Leu38=)	FLVCR1, LOC129932486	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1456300	NM_014053.4(FLVCR1):c.126del (p.Ala44fs)	FLVCR1, LOC129932486 (A44fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 391253	NM_014053.4(FLVCR1):c.133G>A (p.Gly45Ser)	FLVCR1, LOC129932486 (G45S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1514463	NM_014053.4(FLVCR1):c.137C>T (p.Thr46Ile)	FLVCR1, LOC129932486 (T46I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1421856	NM_014053.4(FLVCR1):c.139_151del (p.Phe47fs)	FLVCR1, LOC129932486 (F47fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 994876	NM_014053.4(FLVCR1):c.143C>T (p.Pro48Leu)	FLVCR1, LOC129932486 (P48L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1668870	NM_014053.4(FLVCR1):c.150T>C (p.Asn50=)	FLVCR1, LOC129932486	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1962180	NM_014053.4(FLVCR1):c.154del (p.Ala52fs)	FLVCR1, LOC129932486 (A52fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1475326	NM_014053.4(FLVCR1):c.152G>A (p.Gly51Glu)	FLVCR1, LOC129932486 (G51E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 129102	NM_014053.4(FLVCR1):c.154G>C (p.Ala52Pro)	FLVCR1, LOC129932486 (A52P)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1345277	NM_014053.4(FLVCR1):c.155C>T (p.Ala52Val)	FLVCR1, LOC129932486 (A52V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2119536	NM_014053.4(FLVCR1):c.157C>T (p.Pro53Ser)	FLVCR1, LOC129932486 (P53S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2013347	NM_014053.4(FLVCR1):c.157C>A (p.Pro53Thr)	FLVCR1, LOC129932486 (P53T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1567019	NM_014053.4(FLVCR1):c.165C>T (p.Asp55=)	FLVCR1, LOC129932486	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3279275	NM_014053.4(FLVCR1):c.168C>A (p.Ser56Arg)	FLVCR1, LOC129932486 (S56R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 960843	NM_014053.4(FLVCR1):c.169C>G (p.Leu57Val)	FLVCR1, LOC129932486 (L57V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1961607	NM_014053.4(FLVCR1):c.171C>T (p.Leu57=)	FLVCR1, LOC129932486	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1358691	NM_014053.4(FLVCR1):c.176C>T (p.Ala59Val)	FLVCR1, LOC129932486 (A59V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1085283	NM_014053.4(FLVCR1):c.177C>T (p.Ala59=)	FLVCR1, LOC129932486	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2528835	NM_014053.4(FLVCR1):c.178G>A (p.Ala60Thr)	FLVCR1, LOC129932486 (A60T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1021896	NM_014053.4(FLVCR1):c.178_179delinsAT (p.Ala60Ile)	FLVCR1, LOC129932486 (A60I)	Indel (missense variant)	not provided	GUncertain significance
Select item 1006567	NM_014053.4(FLVCR1):c.178G>T (p.Ala60Ser)	FLVCR1, LOC129932486 (A60S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2528877	NM_014053.4(FLVCR1):c.179C>T (p.Ala60Val)	FLVCR1, LOC129932486 (A60V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1947854	NM_014053.4(FLVCR1):c.183G>C (p.Ser61=)	FLVCR1, LOC129932486	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1629538	NM_014053.4(FLVCR1):c.186A>G (p.Gly62=)	FLVCR1, LOC129932486	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1403839	NM_014053.4(FLVCR1):c.194G>A (p.Gly65Asp)	FLVCR1, LOC129932486 (G65D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1094540	NM_014053.4(FLVCR1):c.198G>T (p.Gly66=)	FLVCR1, LOC129932486	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1159326	NM_014053.4(FLVCR1):c.201T>C (p.Pro67=)	FLVCR1, LOC129932486	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2672383	NM_014053.4(FLVCR1):c.202C>T (p.Gln68Ter)	FLVCR1, LOC129932486 (Q68*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 863677	NM_014053.4(FLVCR1):c.202C>G (p.Gln68Glu)	FLVCR1, LOC129932486 (Q68E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1359207	NM_014053.4(FLVCR1):c.215C>T (p.Ala72Val)	FLVCR1, LOC129932486 (A72V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 738292	NM_014053.4(FLVCR1):c.216C>A (p.Ala72=)	FLVCR1, LOC129932486	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2007153	NM_014053.4(FLVCR1):c.238del (p.Arg80fs)	FLVCR1, LOC129932486 (R80fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1033256	NM_014053.4(FLVCR1):c.236C>T (p.Ala79Val)	FLVCR1, LOC129932486 (A79V)	Single nucleotide variant (missense variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 1426561	NM_014053.4(FLVCR1):c.237_238delinsTT (p.Arg80Trp)	FLVCR1, LOC129932486 (R80W)	Indel (missense variant)	not provided	GUncertain significance
Select item 873877	NM_014053.4(FLVCR1):c.241C>T (p.Leu81=)	FLVCR1, LOC129932486	Single nucleotide variant (synonymous variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 1585715	NM_014053.4(FLVCR1):c.246G>A (p.Leu82=)	FLVCR1, LOC129932486	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1468348	NM_014053.4(FLVCR1):c.251C>T (p.Ala84Val)	FLVCR1, LOC129932486 (A84V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1345851	NM_014053.4(FLVCR1):c.253G>A (p.Gly85Ser)	FLVCR1, LOC129932486 (G85S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 841285	NM_014053.4(FLVCR1):c.254G>C (p.Gly85Ala)	FLVCR1, LOC129932486 (G85A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2570751	NM_014053.4(FLVCR1):c.256G>A (p.Ala86Thr)	FLVCR1, LOC129932486 (A86T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1399685	NM_014053.4(FLVCR1):c.263C>A (p.Ala88Asp)	FLVCR1, LOC129932486 (A88D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 447350	NM_014053.4(FLVCR1):c.267G>A (p.Glu89=)	FLVCR1, LOC129932486	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 2111561	NM_014053.4(FLVCR1):c.269C>A (p.Thr90Asn)	FLVCR1, LOC129932486 (T90N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 873878	NM_014053.4(FLVCR1):c.270C>A (p.Thr90=)	FLVCR1, LOC129932486	Single nucleotide variant (synonymous variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 1139163	NM_014053.4(FLVCR1):c.279C>A (p.Ala93=)	FLVCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1119225	NM_014053.4(FLVCR1):c.279C>T (p.Ala93=)	FLVCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1942924	NM_014053.4(FLVCR1):c.287G>A (p.Ser96Asn)	FLVCR1 (S96N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1637193	NM_014053.4(FLVCR1):c.291G>T (p.Pro97=)	FLVCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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