ClinVar for Gene (Select 89778) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 131

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3317589	NM_001370475.1(SERPINB11):c.1099G>A (p.Ala367Thr)	SERPINB11 (A280T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317588	NM_001370475.1(SERPINB11):c.139A>G (p.Arg47Gly)	SERPINB11 (R47G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317587	NM_001370475.1(SERPINB11):c.800C>T (p.Thr267Met)	SERPINB11 (T180M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317586	NM_001370475.1(SERPINB11):c.229T>C (p.Cys77Arg)	SERPINB11 (C77R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160393	NM_001370475.1(SERPINB11):c.88T>G (p.Phe30Val)	SERPINB11 (F30V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160392	NM_001370475.1(SERPINB11):c.794C>T (p.Ser265Leu)	SERPINB11 (S178L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160391	NM_001370475.1(SERPINB11):c.707T>C (p.Leu236Pro)	SERPINB11 (L236P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160390	NM_001370475.1(SERPINB11):c.614G>A (p.Ser205Asn)	SERPINB11 (S205N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160389	NM_001370475.1(SERPINB11):c.523G>C (p.Val175Leu)	SERPINB11 (V175L +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3160388	NM_001370475.1(SERPINB11):c.442A>C (p.Thr148Pro)	SERPINB11 (T148P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160387	NM_001370475.1(SERPINB11):c.434C>T (p.Thr145Met)	SERPINB11 (T31M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160386	NM_001370475.1(SERPINB11):c.346G>T (p.Ala116Ser)	SERPINB11 (A2S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160385	NM_001370475.1(SERPINB11):c.161T>G (p.Leu54Trp)	SERPINB11 (L54W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160384	NM_001370475.1(SERPINB11):c.121A>G (p.Met41Val)	SERPINB11 (M41V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160383	NM_001370475.1(SERPINB11):c.1028G>T (p.Gly343Val)	SERPINB11 (G343V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063544	GRCh37/hg19 18q21.31-23(chr18:55363398-78014123)x1	ADNP2, ALPK2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3062374	GRCh37/hg19 18q21.2-23(chr18:48766173-78014123)x1	ADNP2, ALPK2 +90 more	Copy number loss	not specified	GPathogenic
Select item 3062371	GRCh37/hg19 18q21.32-22.3(chr18:58508272-70495604)x3	BCL2, CBLN2 +30 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685624	GRCh37/hg19 18q21.33-23(chr18:60771809-78014123)x1	ADNP2, ATP9B +51 more	Copy number loss	not provided	GPathogenic
Select item 2648795	NM_001370475.1(SERPINB11):c.341C>T (p.Thr114Met)	SERPINB11 (T114M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2624144	NM_001370475.1(SERPINB11):c.55C>G (p.Leu19Val)	SERPINB11 (L19V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592778	NM_001370475.1(SERPINB11):c.277C>G (p.Gln93Glu)	SERPINB11 (Q93E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538185	NM_001370475.1(SERPINB11):c.1133C>T (p.Thr378Ile)	SERPINB11 (T203I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2533237	NM_001370475.1(SERPINB11):c.860C>A (p.Pro287His)	SERPINB11 (P112H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530018	NM_001370475.1(SERPINB11):c.62G>A (p.Ser21Asn)	SERPINB11 (S21N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516151	NM_001370475.1(SERPINB11):c.805C>A (p.His269Asn)	SERPINB11 (H182N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472109	NM_001370475.1(SERPINB11):c.545T>C (p.Ile182Thr)	SERPINB11 (I182T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461743	NM_001370475.1(SERPINB11):c.634G>A (p.Val212Met)	SERPINB11 (V212M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389803	NM_001370475.1(SERPINB11):c.833T>C (p.Met278Thr)	SERPINB11 (M103T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389296	NM_001370475.1(SERPINB11):c.367A>G (p.Ser123Gly)	SERPINB11 (S123G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388823	NM_001370475.1(SERPINB11):c.751G>A (p.Val251Ile)	SERPINB11 (V76I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368163	NM_001370475.1(SERPINB11):c.26T>C (p.Val9Ala)	SERPINB11 (V9A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359559	NM_001370475.1(SERPINB11):c.1085G>T (p.Arg362Ile)	SERPINB11 (R187I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356820	NM_001370475.1(SERPINB11):c.731G>A (p.Ser244Asn)	SERPINB11 (S157N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348930	NM_001370475.1(SERPINB11):c.922G>T (p.Asp308Tyr)	SERPINB11 (D133Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344700	NM_001370475.1(SERPINB11):c.434C>G (p.Thr145Arg)	SERPINB11 (T145R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328590	NM_001370475.1(SERPINB11):c.1088C>T (p.Ala363Val)	SERPINB11 (A363V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314073	NM_001370475.1(SERPINB11):c.970A>G (p.Lys324Glu)	SERPINB11 (K149E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302179	NM_001370475.1(SERPINB11):c.169G>C (p.Val57Leu)	SERPINB11 (V57L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249722	NM_001370475.1(SERPINB11):c.839G>C (p.Arg280Thr)	SERPINB11 (R105T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242625	NM_001370475.1(SERPINB11):c.80A>T (p.Asn27Ile)	SERPINB11 (N27I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221637	NM_001370475.1(SERPINB11):c.686C>T (p.Pro229Leu)	SERPINB11 (P229L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205315	NM_001370475.1(SERPINB11):c.584G>A (p.Arg195Lys)	SERPINB11 (R195K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808639	GRCh37/hg19 18q21.2-23(chr18:53624405-78014123)x1	ADNP2, ALPK2 +80 more	Copy number loss	not provided	GPathogenic
Select item 1703624	GRCh37/hg19 18q21.33-23(chr18:61289055-78014123)	ADNP2, ATP9B +45 more	Copy number loss	Deletion of long arm of chromosome 18	GPathogenic
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1703234	Single allele	LOC126862831, LOC130062709 +430 more	Deletion	Deletion of long arm of chromosome 18	GPathogenic
Select item 1526630	GRCh37/hg19 18q21.33-23(chr18:59332806-78014123)	FBXO15, SLC66A2 +57 more	Copy number loss	not specified	GPathogenic
Select item 1526628	GRCh37/hg19 18q21.32-23(chr18:58305972-78014123)	PHLPP1, PIGN +58 more	Copy number loss	not specified	GPathogenic
Select item 1526627	GRCh37/hg19 18q21.2-23(chr18:53309113-78014123)	SERPINB3, ZCCHC2 +81 more	Copy number loss	not specified	GPathogenic
Select item 1526624	GRCh37/hg19 18q21.2-23(chr18:53100584-78014123)	ADNP2, ALPK2 +82 more	Copy number loss	not specified	GPathogenic
Select item 1526623	GRCh37/hg19 18q21.2-23(chr18:52837852-77989426)	ADNP2, ALPK2 +82 more	Copy number loss	not specified	GPathogenic
Select item 1526622	GRCh37/hg19 18q21.2-23(chr18:52675201-78014123)	ADNP2, ALPK2 +82 more	Copy number loss	not specified	GPathogenic
Select item 1526620	GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988)	ALPK2, ATP8B1 +52 more	Copy number loss	not specified	GPathogenic
Select item 1526617	GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)	MAPK4, MBD1 +101 more	Copy number loss	not specified	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1514710	NC_000018.9:g.(?_59713089)_(61654512_?)dup	BCL2, HMSD +17 more	Duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 1403561	NC_000018.9:g.(?_59713089)_(61654512_?)del	PHLPP1, PIGN +17 more	Deletion	not provided	GPathogenic
Select item 1180529	GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3	MAPRE2, TSHZ1 +176 more	Copy number gain	not provided	GPathogenic
Select item 1176065	GRCh37/hg19 18q21.31-23(chr18:54285235-77960815)x1	LMAN1, MALT1 +80 more	Copy number loss	not provided	GPathogenic
Select item 1047896	GRCh37/hg19 18q21.2-23(chr18:51925586-78010032)	PARD6G, PHLPP1 +85 more	Copy number gain	Global developmental delay	GPathogenic
Select item 816053	GRCh37/hg19 18q21.33-23(chr18:60098018-78014123)x1	TXNL4A, CYB5A +53 more	Copy number loss	not provided	GPathogenic
Select item 816052	GRCh37/hg19 18q21.32-23(chr18:56750525-78014123)x1	ZNF236, CYB5A +66 more	Copy number loss	not provided	GPathogenic
Select item 816051	GRCh37/hg19 18q21.31-23(chr18:55458425-78014123)x1	PHLPP1, MC4R +72 more	Copy number loss	not provided	GPathogenic
Select item 816050	GRCh37/hg19 18q21.2-23(chr18:49460596-78014123)x1	BOD1L2, SALL3 +90 more	Copy number loss	not provided	GPathogenic
Select item 687243	GRCh37/hg19 18q21.33-22.1(chr18:61388176-62052163)x1	HMSD, SERPINB10 +4 more	Copy number loss	not provided	GUncertain significance
Select item 686410	GRCh37/hg19 18q21.1-21.33(chr18:45621155-61416536)x3	ACAA2, ALPK2 +66 more	Copy number gain	not provided	GPathogenic
Select item 626290	Single allele	ADNP2, ATP9B +59 more	Deletion	Deletion of long arm of chromosome 18	GPathogenic
Select item 564571	GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1	ACAA2, ADNP2 +107 more	Copy number loss	not provided	GPathogenic
Select item 564570	GRCh37/hg19 18q21.31-23(chr18:55298900-78014123)x1	PMAIP1, GALR1 +72 more	Copy number loss	not provided	GPathogenic
Select item 564569	GRCh37/hg19 18q21.32-23(chr18:56905884-78014123)x1	DIPK1C, SLC66A2 +64 more	Copy number loss	not provided	GPathogenic
Select item 564567	GRCh37/hg19 18q21.31-22.3(chr18:55083032-72743857)x1	CDH7, DOK6 +55 more	Copy number loss	not provided	GPathogenic
Select item 564566	GRCh37/hg19 18q21.33-23(chr18:60416709-78014123)x1	ZNF236, TIMM21 +52 more	Copy number loss	not provided	GPathogenic
Select item 443993	GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 443662	GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 443563	GRCh37/hg19 18q21.2-23(chr18:50224898-78014123)x1	ADNP2, ALPK2 +90 more	Copy number loss	See cases	GLikely pathogenic
Select item 443274	GRCh37/hg19 18q21.1-23(chr18:47454437-78014123)x3	LINC01879, LMAN1 +101 more	Copy number gain	See cases	GPathogenic
Select item 443196	GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3	ACAA2, ADNP2 +150 more	Copy number gain	See cases	GPathogenic
Select item 443117	GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3	TMX3, TNFRSF11A +128 more	Copy number gain	See cases	GPathogenic
Select item 442528	GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3	ACAA2, ADNP2 +121 more	Copy number gain	See cases	GPathogenic
Select item 442460	GRCh37/hg19 18q21.31-23(chr18:54462182-78014123)x1	ADNP2, ALPK2 +79 more	Copy number loss	See cases	GPathogenic
Select item 442435	GRCh37/hg19 18q21.33-23(chr18:59809990-78014123)x1	ADNP2, ATP9B +56 more	Copy number loss	See cases	GPathogenic
Select item 442227	GRCh37/hg19 18q21.33-23(chr18:59876469-78014123)x1	ADNP2, ATP9B +55 more	Copy number loss	See cases	GPathogenic
Select item 442013	GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3	ABHD3, ACAA2 +163 more	Copy number gain	See cases	GPathogenic
Select item 441859	GRCh37/hg19 18q21.32-23(chr18:58768873-78014123)x1	ADNP2, ATP9B +58 more	Copy number loss	See cases	GPathogenic
Select item 441853	GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3	ACAA2, ADNP2 +142 more	Copy number gain	See cases	GPathogenic
Select item 441661	GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1	WDR7, ZCCHC2 +109 more	Copy number loss	See cases	GPathogenic
Select item 395441	GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 369836	GRCh37/hg19 18q21.33-23(chr18:59461447-78010032)x1	ADNP2, ATP9B +57 more	Copy number loss	not provided	GLikely pathogenic
Select item 253620	GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 253575	GRCh37/hg19 18q21.32-23(chr18:58525322-78005236)x3	SOCS6, SERPINB10 +58 more	Copy number gain	See cases	GPathogenic
Select item 253425	GRCh37/hg19 18q21.32-22.2(chr18:58014591-68158862)x1	CDH19, CDH7 +29 more	Copy number loss	See cases	GPathogenic
Select item 253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	TNFRSF11A, TXNL1 +267 more	Copy number gain	See cases	GPathogenic
Select item 221348	Single allele	CDH7, HMSD +5 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155128	GRCh38/hg38 18q21.32-22.3(chr18:59909593-72609801)x3	LOC132090499, LOC132090500 +200 more	Copy number gain	See cases	GLikely pathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154074	GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	LOC130062694, LOC130062695 +887 more	Copy number gain	See cases	GPathogenic

<< First< Prev

Page of 2