11028[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 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 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 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 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 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 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 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 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 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 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 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	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 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 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 60302	GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1	LOC129999681, LOC129999682 +573 more	Copy number loss	See cases	GPathogenic
Select item 57118	GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1	ABCB8, ABCF2 +358 more	Copy number loss	See cases	GPathogenic
Select item 148943	GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1	ABCB8, ABCF2 +540 more	Copy number loss	See cases	GPathogenic
Select item 148263	GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1	LOC129999684, LOC129999685 +538 more	Copy number loss	See cases	GLikely pathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	LOC129999655, LOC129999656 +533 more	Copy number loss	See cases	GPathogenic
Select item 148715	GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1	ABCB8, ABCF2 +473 more	Copy number loss	See cases	GPathogenic
Select item 155436	GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1	UBE3C, VIPR2 +526 more	Copy number loss	See cases	GPathogenic
Select item 57408	GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1	ABCB8, ABCF2 +526 more	Copy number loss	See cases	GPathogenic
Select item 146558	GRCh38/hg38 7q35-36.2(chr7:147345844-153833351)x3	ABCB8, ABCF2 +329 more	Copy number gain	See cases	GPathogenic
Select item 60313	GRCh38/hg38 7q36.1(chr7:148256584-152332535)x1	ABCB8, ABCF2 +293 more	Copy number loss	See cases	GPathogenic
Select item 149569	GRCh38/hg38 7q36.1-36.2(chr7:150113232-154162779)x3	ABCB8, ABCF2 +212 more	Copy number gain	See cases	GLikely pathogenic
Select item 154525	GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1	ABCB8, ABCF2 +407 more	Copy number loss	See cases	GPathogenic
Select item 150864	GRCh38/hg38 7q36.1-36.2(chr7:150275734-153342804)x3	ABCB8, ABCF2 +205 more	Copy number gain	See cases	GUncertain significance
Select item 57001	GRCh38/hg38 7q36.1(chr7:150319864-152674271)x1	ABCB8, ABCF2 +191 more	Copy number loss	See cases	GPathogenic
Select item 146852	GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1	ABCB8, ABCF2 +375 more	Copy number loss	See cases	GPathogenic
Select item 148391	GRCh38/hg38 7q36.1-36.3(chr7:150802801-159335866)x1	ABCB8, ABCF2 +351 more	Copy number loss	See cases	GPathogenic
Select item 3319962	NM_003040.4(SLC4A2):c.9C>G (p.Ser3Arg)	SLC4A2 (S3R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533111	NM_003040.4(SLC4A2):c.34G>A (p.Ala12Thr)	SLC4A2 (A12T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 64516	NM_003040.4(SLC4A2):c.53C>T (p.Pro18Leu)	SLC4A2 (P18L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64517	NM_003040.4(SLC4A2):c.61G>A (p.Glu21Lys)	SLC4A2 (E21K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64519	NM_003040.4(SLC4A2):c.94G>A (p.Glu32Lys)	SLC4A2 (E32K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2658175	NM_003040.4(SLC4A2):c.162C>T (p.Ala54=)	SLC4A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3319961	NM_003040.4(SLC4A2):c.175G>C (p.Gly59Arg)	SLC4A2 (G59R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 64509	NM_003040.4(SLC4A2):c.237C>T (p.His79=)	SLC4A2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3165059	NM_003040.4(SLC4A2):c.281G>A (p.Arg94His)	SLC4A2 (R94H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257223	NM_003040.4(SLC4A2):c.286C>T (p.Arg96Cys)	SLC4A2 (R96C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492095	NM_003040.4(SLC4A2):c.302G>T (p.Gly101Val)	SLC4A2 (G87V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658176	NM_003040.4(SLC4A2):c.320G>A (p.Arg107Gln)	SLC4A2 (R107Q +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3165068	NM_003040.4(SLC4A2):c.385G>T (p.Asp129Tyr)	SLC4A2 (D120Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387068	NM_003040.4(SLC4A2):c.412C>T (p.Arg138Trp)	SLC4A2 (R124W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658177	NM_003040.4(SLC4A2):c.459+4C>T	SLC4A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2304793	NM_003040.4(SLC4A2):c.490C>T (p.Arg164Trp)	SLC4A2 (R150W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352816	NM_003040.4(SLC4A2):c.491G>A (p.Arg164Gln)	SLC4A2 (R164Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165070	NM_003040.4(SLC4A2):c.503G>A (p.Arg168Lys)	SLC4A2 (R154K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165071	NM_003040.4(SLC4A2):c.530T>C (p.Leu177Pro)	SLC4A2 (L163P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2500827	NM_003040.4(SLC4A2):c.556G>A (p.Ala186Thr)	SLC4A2 (A186T +2 more)	Single nucleotide variant (missense variant)	Osteopetrosis, autosomal recessive 9	GPathogenic
Select item 3319958	NM_003040.4(SLC4A2):c.580A>C (p.Thr194Pro)	SLC4A2 (T180P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324967	NM_003040.4(SLC4A2):c.584A>C (p.Gln195Pro)	SLC4A2 (Q181P +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3165072	NM_003040.4(SLC4A2):c.586G>A (p.Val196Met)	SLC4A2 (V187M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319954	NM_003040.4(SLC4A2):c.596C>T (p.Ala199Val)	SLC4A2 (A185V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2519801	NM_003040.4(SLC4A2):c.635G>T (p.Gly212Val)	SLC4A2 (G203V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 64518	NM_003040.4(SLC4A2):c.646G>A (p.Gly216Arg)	SLC4A2 (G216R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2296391	NM_003040.4(SLC4A2):c.661C>T (p.Arg221Cys)	SLC4A2 (R221C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165073	NM_003040.4(SLC4A2):c.695G>A (p.Ser232Asn)	SLC4A2 (S223N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469957	NM_003040.4(SLC4A2):c.791C>T (p.Thr264Met)	SLC4A2 (T250M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368004	NM_003040.4(SLC4A2):c.841G>A (p.Val281Ile)	SLC4A2 (V267I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348822	NM_003040.4(SLC4A2):c.910C>T (p.Arg304Trp)	SLC4A2 (R290W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538368	NM_003040.4(SLC4A2):c.931C>G (p.Arg311Gly)	SLC4A2 (R311G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509394	NM_003040.4(SLC4A2):c.938G>A (p.Arg313Gln)	SLC4A2 (R299Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484944	NM_003040.4(SLC4A2):c.952C>G (p.His318Asp)	SLC4A2 (H309D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317936	NM_003040.4(SLC4A2):c.1022G>A (p.Arg341Gln)	SLC4A2 (R327Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165051	NM_003040.4(SLC4A2):c.1068G>C (p.Glu356Asp)	SLC4A2 (E356D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319957	NM_003040.4(SLC4A2):c.1072G>A (p.Glu358Lys)	SLC4A2 (E349K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535245	NM_003040.4(SLC4A2):c.1154T>C (p.Val385Ala)	SLC4A2 (V376A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294051	NM_003040.4(SLC4A2):c.1254C>G (p.Asn418Lys)	SLC4A2 (N404K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598028	NM_003040.4(SLC4A2):c.1255G>A (p.Val419Met)	SLC4A2 (V405M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592396	NM_003040.4(SLC4A2):c.1318C>G (p.Arg440Gly)	SLC4A2 (R431G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165052	NM_003040.4(SLC4A2):c.1423G>A (p.Glu475Lys)	SLC4A2 (E461K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330644	NM_003040.4(SLC4A2):c.1457T>C (p.Leu486Pro)	SLC4A2 (L486P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165053	NM_003040.4(SLC4A2):c.1460C>T (p.Pro487Leu)	SLC4A2 (P487L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165054	NM_003040.4(SLC4A2):c.1471C>T (p.Pro491Ser)	SLC4A2 (P491S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408056	NM_003040.4(SLC4A2):c.1483A>G (p.Ile495Val)	SLC4A2 (I481V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308469	NM_003040.4(SLC4A2):c.1493C>T (p.Ser498Phe)	SLC4A2 (S484F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509731	NM_003040.4(SLC4A2):c.1570G>A (p.Val524Met)	SLC4A2 (V515M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165055	NM_003040.4(SLC4A2):c.1573G>C (p.Glu525Gln)	SLC4A2 (E525Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165056	NM_003040.4(SLC4A2):c.1575G>T (p.Glu525Asp)	SLC4A2 (E516D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2500828	NM_003040.4(SLC4A2):c.1658T>C (p.Val553Ala)	SLC4A2 (V553A +2 more)	Single nucleotide variant (missense variant)	Osteopetrosis, autosomal recessive 9	GPathogenic
Select item 2226011	NM_003040.4(SLC4A2):c.1685C>T (p.Pro562Leu)	SLC4A2 (P553L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570067	NM_003040.4(SLC4A2):c.1759G>A (p.Glu587Lys)	SLC4A2 (E573K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591540	NM_003040.4(SLC4A2):c.1870C>T (p.Arg624Cys)	SLC4A2 (R615C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396824	NM_003040.4(SLC4A2):c.1966C>G (p.Gln656Glu)	SLC4A2 (Q642E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319956	NM_003040.4(SLC4A2):c.2027G>A (p.Arg676Gln)	SLC4A2 (R676Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065296	NM_003040.4(SLC4A2):c.2048G>T (p.Gly683Val)	SLC4A2 (G669V +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2456894	NM_003040.4(SLC4A2):c.2074C>T (p.Arg692Cys)	SLC4A2 (R692C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236598	NM_003040.4(SLC4A2):c.2084A>T (p.His695Leu)	SLC4A2 (H681L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1344708	NM_003040.4(SLC4A2):c.2107G>A (p.Ala703Thr)	SLC4A2 (A689T +2 more)	Single nucleotide variant (missense variant)	Distal renal tubular acidosis	GLikely pathogenic
Select item 3165057	NM_003040.4(SLC4A2):c.2131G>A (p.Ala711Thr)	SLC4A2 (A702T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067257	NM_003040.4(SLC4A2):c.2191+3G>A	SLC4A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 64507	NM_003040.4(SLC4A2):c.2220G>T (p.Val740=)	SLC4A2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 64508	NM_003040.4(SLC4A2):c.2242G>T (p.Ala748Ser)	SLC4A2 (A748S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3319955	NM_003040.4(SLC4A2):c.2339C>T (p.Ser780Leu)	SLC4A2 (S771L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566724	NM_003040.4(SLC4A2):c.2462G>A (p.Arg821His)	SLC4A2 (R821H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539722	NM_003040.4(SLC4A2):c.2570C>G (p.Ala857Gly)	SLC4A2 (A848G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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