ClinVar for Gene (Select 79595) - ClinVar

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

Links from Gene

Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3316135	NM_001330301.2(SAP130):c.1531G>A (p.Ala511Thr)	SAP130 (A537T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316134	NM_001330301.2(SAP130):c.647G>A (p.Ser216Asn)	SAP130 (S242N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316133	NM_001330301.2(SAP130):c.1916C>G (p.Ser639Trp)	SAP130 (S665W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316132	NM_001330301.2(SAP130):c.1552C>T (p.Pro518Ser)	SAP130 (P517S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316131	NM_001330301.2(SAP130):c.928G>T (p.Ala310Ser)	SAP130 (A310S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157781	NM_001330301.2(SAP130):c.788T>G (p.Val263Gly)	SAP130 (V263G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157780	NM_001330301.2(SAP130):c.3001A>G (p.Asn1001Asp)	SAP130 (N1001D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157779	NM_001330301.2(SAP130):c.2785G>A (p.Val929Ile)	SAP130 (V929I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157778	NM_001330301.2(SAP130):c.2714C>A (p.Pro905His)	SAP130 (P870H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157777	NM_001330301.2(SAP130):c.2604G>T (p.Glu868Asp)	SAP130 (E859D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157776	NM_001330301.2(SAP130):c.2446A>G (p.Thr816Ala)	SAP130 (T815A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157775	NM_001330301.2(SAP130):c.2347G>A (p.Val783Ile)	SAP130 (V747I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157774	NM_001330301.2(SAP130):c.2305G>T (p.Ala769Ser)	SAP130 (A795S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157773	NM_001330301.2(SAP130):c.2242G>A (p.Val748Ile)	SAP130 (V712I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157772	NM_001330301.2(SAP130):c.2164G>A (p.Val722Ile)	SAP130 (V722I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157771	NM_001330301.2(SAP130):c.1629G>C (p.Gln543His)	SAP130 (Q542H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157770	NM_001330301.2(SAP130):c.1153A>G (p.Met385Val)	SAP130 (M411V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 3062624	GRCh37/hg19 2q14.3(chr2:125361063-129616153)x3	AMMECR1L, BIN1 +16 more	Copy number gain	not specified	GUncertain significance
Select item 2684675	GRCh37/hg19 2q14.3(chr2:124806439-128906413)x1	AMMECR1L, BIN1 +15 more	Copy number loss	not provided	GUncertain significance
Select item 2651344	NM_001330301.2(SAP130):c.1814_1815insTCCATCTGCCACAATTGTGGC (p.Ala605_Asn606insProSerAlaThrIleValAla)	SAP130	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 2630286	NM_001330301.2(SAP130):c.740T>C (p.Ile247Thr)	SAP130 (I247T +1 more)	Single nucleotide variant (missense variant)	SAP130-related disorder	GUncertain significance
Select item 2619472	NM_001330301.2(SAP130):c.103G>A (p.Ala35Thr)	SAP130 (A35T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618402	NM_001330301.2(SAP130):c.58C>G (p.Pro20Ala)	SAP130 (P46A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588173	NM_001330301.2(SAP130):c.-7+795C>T	LOC129934738, SAP130 (P7S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2565291	NM_001330301.2(SAP130):c.1711A>G (p.Ile571Val)	SAP130 (I570V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546519	NM_001330301.2(SAP130):c.2645G>A (p.Arg882His)	SAP130 (R881H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529050	NM_001330301.2(SAP130):c.2197A>G (p.Ile733Val)	SAP130 (I697V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513058	NM_001330301.2(SAP130):c.923G>A (p.Arg308His)	SAP130 (R334H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510896	NM_001330301.2(SAP130):c.338G>A (p.Gly113Glu)	SAP130 (G113E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477649	NM_001330301.2(SAP130):c.2284C>T (p.Pro762Ser)	SAP130 (P727S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422856	NC_000002.11:g.(?_127806102)_(129076137_?)del	AMMECR1L, BIN1 +14 more	Deletion	Thrombophilia due to protein C deficiency, autosomal dominant	GPathogenic
Select item 2422380	NC_000002.11:g.(?_127451420)_(129076137_?)del	AMMECR1L, BIN1 +15 more	Deletion	not provided	GPathogenic
Select item 2406814	NM_001330301.2(SAP130):c.2362G>A (p.Val788Ile)	SAP130 (V779I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399656	NM_001330301.2(SAP130):c.3158G>A (p.Arg1053Gln)	SAP130 (R1017Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389217	NM_001330301.2(SAP130):c.770A>G (p.Asn257Ser)	SAP130 (N283S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389053	NM_001330301.2(SAP130):c.149C>T (p.Ala50Val)	SAP130 (A50V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382805	NM_001330301.2(SAP130):c.1648A>T (p.Ile550Phe)	SAP130 (I549F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378054	NM_001330301.2(SAP130):c.2162C>T (p.Ala721Val)	SAP130 (A685V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372157	NM_001330301.2(SAP130):c.1024A>G (p.Ile342Val)	SAP130 (I342V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369051	NM_001330301.2(SAP130):c.-6-811G>C	LOC129934738, SAP130 (G19R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362211	NM_001330301.2(SAP130):c.-7+817C>G	LOC129934738, SAP130 (A14G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346154	NM_001330301.2(SAP130):c.2440A>G (p.Thr814Ala)	SAP130 (T805A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341478	NM_001330301.2(SAP130):c.767C>G (p.Ser256Cys)	SAP130 (S256C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336613	NM_001330301.2(SAP130):c.2192C>T (p.Pro731Leu)	SAP130 (P722L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319781	NM_001330301.2(SAP130):c.1969C>T (p.Arg657Trp)	SAP130 (R656W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316651	NM_001330301.2(SAP130):c.1678C>G (p.Leu560Val)	SAP130 (L560V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316255	NM_001330301.2(SAP130):c.1480T>G (p.Ser494Ala)	SAP130 (S493A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315429	NM_001330301.2(SAP130):c.1309C>T (p.Arg437Trp)	SAP130 (R463W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293358	NM_001330301.2(SAP130):c.2926G>A (p.Glu976Lys)	SAP130 (E975K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273299	NM_001330301.2(SAP130):c.-7+784C>T	LOC129934738, SAP130 (P3L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264890	NM_001330301.2(SAP130):c.2800G>A (p.Glu934Lys)	SAP130 (E933K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264821	NM_001330301.2(SAP130):c.2407A>G (p.Met803Val)	SAP130 (M768V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261024	NM_001330301.2(SAP130):c.2491C>G (p.Pro831Ala)	SAP130 (P796A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261023	NM_001330301.2(SAP130):c.2490G>T (p.Met830Ile)	SAP130 (M794I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238774	NM_001330301.2(SAP130):c.23G>T (p.Arg8Leu)	SAP130 (R34L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1526896	GRCh37/hg19 2q14.3(chr2:128024782-129332242)	AMMECR1L, ERCC3 +12 more	Copy number gain	not specified	GUncertain significance
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 1339988	GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)x1	ACMSD, AMER3 +64 more	Copy number loss	not provided	GPathogenic
Select item 1180433	NC_000002.12:g.124348648_129410245del	LOC129934710, LOC129934711 +112 more	Deletion	See cases	Gnot provided
Select item 929341	GRCh37/hg19 2q14.3-21.2(chr2:122952356-133826358)x1	AMER3, AMMECR1L +44 more	Copy number loss	See cases	GLikely pathogenic
Select item 814303	GRCh37/hg19 2q14.3(chr2:128494642-128910835)x3	WDR33, POLR2D +3 more	Copy number gain	not provided	GUncertain significance
Select item 808800	NM_001330301.2(SAP130):c.181C>T (p.Gln61Ter)	SAP130 (Q87* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 689114	GRCh37/hg19 2q14.3(chr2:128670691-128900736)x1	SAP130, UGGT1	Copy number loss	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 441676	GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1	ACMSD, AMER3 +74 more	Copy number loss	See cases	GPathogenic
Select item 153085	GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)x1	AMMECR1L, BIN1 +254 more	Copy number loss	See cases	GPathogenic
Select item 149324	GRCh38/hg38 2q14.3-21.1(chr2:127063206-130527454)x3	AMMECR1L, BIN1 +125 more	Copy number gain	See cases	GUncertain significance
Select item 148393	GRCh38/hg38 2q14.3-21.1(chr2:122847356-129545581)x1	AMMECR1L, BIN1 +116 more	Copy number loss	See cases	GLikely pathogenic
Select item 147544	GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	ACMSD, AMER3 +336 more	Copy number loss	See cases	GPathogenic
Select item 146247	GRCh38/hg38 2q14.3(chr2:127961465-128631641)x3	HS6ST1, LOC112806046 +26 more	Copy number gain	See cases	GLikely benign
Select item 146132	GRCh38/hg38 2q14.3(chr2:123169989-128460075)x1	AMMECR1L, BIN1 +100 more	Copy number loss	See cases	GPathogenic
Select item 60186	GRCh38/hg38 2q14.3(chr2:122324343-128371704)x1	LOC115945190, LOC120961783 +101 more	Copy number loss	See cases	GPathogenic
Select item 60185	GRCh38/hg38 2q14.3(chr2:121824798-128870804)x1	AMMECR1L, BIN1 +121 more	Copy number loss	See cases	GPathogenic
Select item 60184	GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	ACMSD, AMER3 +391 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 80