ClinVar for Gene (Select 285965) - ClinVar

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Links from Gene

Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3324496	NM_177437.1(TAS2R60):c.432G>A (p.Met144Ile)	EPHA1-AS1, TAS2R60 (M144I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324495	NM_177437.1(TAS2R60):c.145C>T (p.Arg49Trp)	EPHA1-AS1, TAS2R60 (R49W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324482	NM_176883.2(TAS2R41):c.433A>C (p.Thr145Pro)	EPHA1-AS1, TAS2R41 (T145P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174136	NM_177437.1(TAS2R60):c.932G>A (p.Arg311His)	EPHA1-AS1, TAS2R60 (R311H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174135	NM_177437.1(TAS2R60):c.88G>T (p.Val30Leu)	EPHA1-AS1, TAS2R60 (V30L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174134	NM_177437.1(TAS2R60):c.760A>C (p.Met254Leu)	EPHA1-AS1, TAS2R60 (M254L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174133	NM_177437.1(TAS2R60):c.743C>T (p.Ala248Val)	EPHA1-AS1, TAS2R60 (A248V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174131	NM_177437.1(TAS2R60):c.694T>G (p.Ser232Ala)	EPHA1-AS1, TAS2R60 (S232A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174130	NM_177437.1(TAS2R60):c.586C>A (p.Pro196Thr)	EPHA1-AS1, TAS2R60 (P196T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174129	NM_177437.1(TAS2R60):c.556C>T (p.Arg186Trp)	EPHA1-AS1, TAS2R60 (R186W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3174128	NM_177437.1(TAS2R60):c.550A>G (p.Ser184Gly)	EPHA1-AS1, TAS2R60 (S184G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174127	NM_177437.1(TAS2R60):c.547G>A (p.Asp183Asn)	EPHA1-AS1, TAS2R60 (D183N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3174126	NM_177437.1(TAS2R60):c.18G>T (p.Met6Ile)	EPHA1-AS1, TAS2R60 (M6I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174105	NM_176883.2(TAS2R41):c.877G>A (p.Val293Met)	EPHA1-AS1, TAS2R41 (V293M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174104	NM_176883.2(TAS2R41):c.412G>A (p.Val138Ile)	EPHA1-AS1, TAS2R41 (V138I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174103	NM_176883.2(TAS2R41):c.164G>A (p.Arg55His)	EPHA1-AS1, TAS2R41 (R55H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174102	NM_176883.2(TAS2R41):c.120G>C (p.Arg40Ser)	EPHA1-AS1, TAS2R41 (R40S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089520	NM_005232.5(EPHA1):c.73G>T (p.Ala25Ser)	EPHA1, EPHA1-AS1 (A25S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601937	NM_177437.1(TAS2R60):c.491A>G (p.His164Arg)	EPHA1-AS1, TAS2R60 (H164R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2557347	NM_176883.2(TAS2R41):c.575C>A (p.Pro192His)	EPHA1-AS1, TAS2R41 (P192H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538207	NM_005232.5(EPHA1):c.43C>G (p.Leu15Val)	EPHA1, EPHA1-AS1 (L15V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518268	NM_177437.1(TAS2R60):c.727A>G (p.Ile243Val)	EPHA1-AS1, TAS2R60 (I243V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2511950	NM_176883.2(TAS2R41):c.413T>A (p.Val138Asp)	EPHA1-AS1, TAS2R41 (V138D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491778	NM_177437.1(TAS2R60):c.604T>G (p.Trp202Gly)	EPHA1-AS1, TAS2R60 (W202G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490939	NM_005232.5(EPHA1):c.59C>A (p.Pro20His)	EPHA1, EPHA1-AS1 (P20H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489669	NM_177437.1(TAS2R60):c.866C>A (p.Ala289Glu)	EPHA1-AS1, TAS2R60 (A289E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480271	NM_176883.2(TAS2R41):c.853T>A (p.Phe285Ile)	EPHA1-AS1, TAS2R41 (F285I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463496	NM_177437.1(TAS2R60):c.769A>G (p.Ile257Val)	EPHA1-AS1, TAS2R60 (I257V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463260	NM_176883.2(TAS2R41):c.683C>A (p.Ala228Asp)	EPHA1-AS1, TAS2R41 (A228D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456468	NM_177437.1(TAS2R60):c.82C>T (p.Arg28Cys)	EPHA1-AS1, TAS2R60 (R28C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2456031	NM_177437.1(TAS2R60):c.32C>T (p.Ser11Leu)	EPHA1-AS1, TAS2R60 (S11L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2391874	NM_176883.2(TAS2R41):c.811G>A (p.Ala271Thr)	EPHA1-AS1, TAS2R41 (A271T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381248	NM_177437.1(TAS2R60):c.733G>T (p.Ala245Ser)	EPHA1-AS1, TAS2R60 (A245S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377886	NM_176883.2(TAS2R41):c.245G>A (p.Arg82Gln)	EPHA1-AS1, TAS2R41 (R82Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2359248	NM_176883.2(TAS2R41):c.55C>G (p.Leu19Val)	EPHA1-AS1, TAS2R41 (L19V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355209	NM_176883.2(TAS2R41):c.56T>C (p.Leu19Pro)	EPHA1-AS1, TAS2R41 (L19P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329364	NM_176883.2(TAS2R41):c.713C>A (p.Ser238Tyr)	EPHA1-AS1, TAS2R41 (S238Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319161	NM_177437.1(TAS2R60):c.464C>G (p.Thr155Ser)	EPHA1-AS1, TAS2R60 (T155S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2308240	NM_176883.2(TAS2R41):c.806A>G (p.Gln269Arg)	EPHA1-AS1, TAS2R41 (Q269R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302901	NM_176883.2(TAS2R41):c.787G>A (p.Asp263Asn)	EPHA1-AS1, TAS2R41 (D263N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297693	NM_177437.1(TAS2R60):c.197G>A (p.Arg66His)	EPHA1-AS1, TAS2R60 (R66H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291015	NM_176883.2(TAS2R41):c.217A>G (p.Lys73Glu)	EPHA1-AS1, TAS2R41 (K73E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283083	NM_177437.1(TAS2R60):c.29C>A (p.Ser10Tyr)	EPHA1-AS1, TAS2R60 (S10Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281593	NM_177437.1(TAS2R60):c.83G>A (p.Arg28His)	EPHA1-AS1, TAS2R60 (R28H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261033	NM_176883.2(TAS2R41):c.751A>C (p.Ile251Leu)	EPHA1-AS1, TAS2R41 (I251L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243430	NM_177437.1(TAS2R60):c.25G>A (p.Gly9Arg)	EPHA1-AS1, TAS2R60 (G9R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227088	NM_176883.2(TAS2R41):c.65C>T (p.Ala22Val)	EPHA1-AS1, TAS2R41 (A22V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211233	NM_177437.1(TAS2R60):c.557G>A (p.Arg186Gln)	EPHA1-AS1, TAS2R60 (R186Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771418	NM_005232.5(EPHA1):c.71G>A (p.Arg24His)	EPHA1, EPHA1-AS1 (R24H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768216	NM_005232.5(EPHA1):c.69G>T (p.Ala23=)	EPHA1, EPHA1-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 155657	GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3	TRBC1, TRBC2 +230 more	Copy number gain	See cases	GUncertain significance
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	TRBC2, TRBD1 +455 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129999721, LOC129999722 +707 more	Copy number loss	See cases	GPathogenic
Select item 147655	GRCh38/hg38 7q35(chr7:143455851-143456472)x3	EPHA1-AS1	Copy number gain	See cases	GBenign
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 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 144163	GRCh38/hg38 7q34-35(chr7:141126407-145652221)x3	AGK, AGK-DT +192 more	Copy number gain	See cases	GPathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 60297	GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1	ADCK2, AGK +373 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 57046	GRCh38/hg38 7q34-35(chr7:142578948-144254897)x1	ARHGEF35, ARHGEF35-AS1 +110 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 73