ClinVar for Gene (Select 55504) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3327516	NM_148957.4(TNFRSF19):c.1069G>C (p.Gly357Arg)	TNFRSF19 (G225R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327515	NM_148957.4(TNFRSF19):c.566G>A (p.Cys189Tyr)	TNFRSF19 (C189Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327514	NM_148957.4(TNFRSF19):c.893A>G (p.Gln298Arg)	TNFRSF19 (Q298R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3327513	NM_148957.4(TNFRSF19):c.202G>A (p.Glu68Lys)	TNFRSF19 (E68K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327511	NM_148957.4(TNFRSF19):c.647C>T (p.Ser216Phe)	TNFRSF19 (S216F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327510	NM_148957.4(TNFRSF19):c.287C>T (p.Ala96Val)	TNFRSF19 (A96V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327509	NM_148957.4(TNFRSF19):c.745C>T (p.Arg249Cys)	TNFRSF19 (R117C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327508	NM_148957.4(TNFRSF19):c.260A>G (p.Gln87Arg)	TNFRSF19 (Q87R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327507	NM_148957.4(TNFRSF19):c.791C>T (p.Pro264Leu)	TNFRSF19 (P264L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244163	NC_000013.10:g.(?_23894756)_(24463459_?)del	MIPEP, PCOTH +3 more	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic
Select item 3180263	NM_148957.4(TNFRSF19):c.227G>A (p.Arg76Gln)	TNFRSF19 (R76Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180262	NM_148957.4(TNFRSF19):c.1049A>T (p.Asn350Ile)	TNFRSF19 (N350I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180261	NM_148957.4(TNFRSF19):c.1006T>C (p.Ser336Pro)	TNFRSF19 (S204P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148850	GRCh37/hg19 13q11-13.3(chr13:19436287-36278224)x3	CDX2, AMER2 +82 more	Copy number gain	not provided	GUncertain significance
Select item 3148846	GRCh37/hg19 13q12.12(chr13:23564568-24888355)x1	C1QTNF9, C1QTNF9B +6 more	Copy number loss	not provided	GUncertain significance
Select item 3063305	GRCh37/hg19 13q12.12-12.2(chr13:23329180-28663294)x3	AMER2, ATP12A +33 more	Copy number gain	not specified	GUncertain significance
Select item 2643681	NM_148957.4(TNFRSF19):c.1245+11G>A	TNFRSF19 (R419Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2643680	NM_148957.4(TNFRSF19):c.855C>T (p.Ala285=)	TNFRSF19	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2643679	NM_148957.4(TNFRSF19):c.735C>T (p.Cys245=)	TNFRSF19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2606202	NM_148957.4(TNFRSF19):c.859G>A (p.Glu287Lys)	TNFRSF19 (E287K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553556	NM_148957.4(TNFRSF19):c.977A>C (p.Tyr326Ser)	TNFRSF19 (Y326S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541179	NM_148957.4(TNFRSF19):c.440C>T (p.Pro147Leu)	TNFRSF19 (P147L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526396	NM_148957.4(TNFRSF19):c.856G>A (p.Gly286Arg)	TNFRSF19 (G154R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519097	NM_148957.4(TNFRSF19):c.640A>G (p.Asn214Asp)	TNFRSF19 (N82D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507699	NM_148957.4(TNFRSF19):c.35C>T (p.Thr12Met)	TNFRSF19 (T12M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461161	NM_148957.4(TNFRSF19):c.521T>C (p.Ile174Thr)	TNFRSF19 (I174T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458827	NM_148957.4(TNFRSF19):c.371A>C (p.Lys124Thr)	TNFRSF19 (K124T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425448	NC_000013.10:g.(?_23667335)_(24463459_?)dup	MIPEP, PCOTH +3 more	Duplication	Spastic paraplegia	GUncertain significance
Select item 2422612	NC_000013.10:g.(?_23898487)_(24463459_?)del	MIPEP, PCOTH +3 more	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic
Select item 2410373	NM_148957.4(TNFRSF19):c.1171G>A (p.Ala391Thr)	TNFRSF19 (A259T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2396850	NM_148957.4(TNFRSF19):c.716G>A (p.Arg239His)	TNFRSF19 (R107H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392541	NM_148957.4(TNFRSF19):c.737G>A (p.Gly246Glu)	TNFRSF19 (G114E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376534	NM_148957.4(TNFRSF19):c.506C>T (p.Ala169Val)	TNFRSF19 (A169V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346121	NM_148957.4(TNFRSF19):c.785C>T (p.Pro262Leu)	TNFRSF19 (P130L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326551	NM_148957.4(TNFRSF19):c.109C>A (p.Gln37Lys)	TNFRSF19 (Q37K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325121	NM_148957.4(TNFRSF19):c.724G>T (p.Val242Leu)	TNFRSF19 (V110L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320241	NM_148957.4(TNFRSF19):c.1245+17G>T	TNFRSF19 (G421V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261208	NM_148957.4(TNFRSF19):c.234C>G (p.His78Gln)	TNFRSF19 (H78Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251809	NM_148957.4(TNFRSF19):c.776C>A (p.Ala259Asp)	TNFRSF19 (A259D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240989	NM_148957.4(TNFRSF19):c.809G>A (p.Gly270Glu)	TNFRSF19 (G270E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1708185	GRCh37/hg19 13q12.12(chr13:23981973-24963501)x3	C1QTNF9, C1QTNF9B +5 more	Copy number gain	See cases	GUncertain significance
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1684647	NC_000013.11:g.22924987_24337204del	LOC130009362, LOC130009363 +57 more	Deletion	See cases	GUncertain significance
Select item 1527755	GRCh37/hg19 13q12.12(chr13:24222769-24492936)	C1QTNF9B, MIPEP +2 more	Copy number loss	not specified	GUncertain significance
Select item 1527754	GRCh37/hg19 13q12.12(chr13:23981973-24479811)	C1QTNF9B, MIPEP +3 more	Copy number gain	not specified	GUncertain significance
Select item 1527753	GRCh37/hg19 13q12.12(chr13:23633501-24447228)	MIPEP, SACS +2 more	Copy number loss	not specified	GUncertain significance
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	VPS36, VWA8 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341219	GRCh37/hg19 13q12.12-12.13(chr13:23315046-25573967)x3	ATP12A, C1QTNF9 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1340152	GRCh37/hg19 13q12.12(chr13:23553363-24970361)x1	C1QTNF9, C1QTNF9B +6 more	Copy number loss	not provided	GUncertain significance
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	DACH1, IRS2 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 988909	GRCh37/hg19 13q12.11-12.13(chr13:22423865-25504992)x3	ATP12A, C1QTNF9 +10 more	Copy number gain	not provided	GUncertain significance
Select item 979362	GRCh37/hg19 13q12.12-12.3(chr13:23775339-30534624)x3	AMER2, GTF3A +40 more	Copy number gain	not provided	GLikely pathogenic
Select item 815575	GRCh37/hg19 13q12.12(chr13:23529865-24963501)x3	MIPEP, C1QTNF9 +6 more	Copy number gain	not provided	GLikely benign
Select item 815574	GRCh37/hg19 13q12.12(chr13:23482111-24896608)x1	C1QTNF9, C1QTNF9B +6 more	Copy number loss	not provided	GUncertain significance
Select item 815567	GRCh37/hg19 13q11-12.12(chr13:19436286-24970361)x1	MPHOSPH8, FGF9 +27 more	Copy number loss	not provided	GPathogenic
Select item 770615	NM_148957.4(TNFRSF19):c.70-4T>C	TNFRSF19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 687349	GRCh37/hg19 13q12.12(chr13:24217091-24495140)x1	C1QTNF9B, MIPEP +2 more	Copy number loss	not provided	GUncertain significance
Select item 687240	GRCh37/hg19 13q12.12(chr13:23506404-24909793)x1	C1QTNF9, C1QTNF9B +6 more	Copy number loss	not provided	GUncertain significance
Select item 686932	GRCh37/hg19 13q12.11-12.13(chr13:20069228-27474401)x3	AMER2, ATP12A +40 more	Copy number gain	not provided	GPathogenic
Select item 685978	GRCh37/hg19 13q12.12(chr13:23506404-24926597)x1	C1QTNF9, C1QTNF9B +6 more	Copy number loss	not provided	GUncertain significance
Select item 685911	GRCh37/hg19 13q12.12(chr13:23506404-24928440)x1	C1QTNF9, C1QTNF9B +6 more	Copy number loss	not provided	GUncertain significance
Select item 685610	GRCh37/hg19 13q12.12(chr13:23506404-24925728)x1	C1QTNF9, C1QTNF9B +6 more	Copy number loss	not provided	GUncertain significance
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	NUDT15, NUFIP1 +211 more	Copy number gain	not provided	GPathogenic
Select item 564075	GRCh37/hg19 13q12.11-12.13(chr13:20008480-25534121)x1	ATP12A, C1QTNF9 +30 more	Copy number loss	not provided	GPathogenic
Select item 564059	GRCh37/hg19 13q12.12(chr13:23519916-24936994)x3	C1QTNF9, C1QTNF9B +6 more	Copy number gain	not provided	GLikely benign
Select item 564058	GRCh37/hg19 13q12.12(chr13:23519916-24936848)x1	SGCG, C1QTNF9 +6 more	Copy number loss	not provided	GUncertain significance
Select item 564057	GRCh37/hg19 13q12.12(chr13:23525351-24910183)x3	PCOTH, C1QTNF9B +6 more	Copy number gain	not provided	GLikely benign
Select item 545158	NC_000013.11:g.(?_22968338)_(24323208_?)del	LOC130009386, LOC130009387 +55 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 523170	GRCh37/hg19 13q12.12-13.2(chr13:24080918-34361992)x1	CDK8, CDX2 +56 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443972	GRCh37/hg19 13q12.12(chr13:23533358-24958572)x1	C1QTNF9, C1QTNF9B +6 more	Copy number loss	See cases	GUncertain significance
Select item 443856	GRCh37/hg19 13q12.12-12.13(chr13:23552966-27027909)x1	AMER2, ATP12A +18 more	Copy number loss	See cases	GLikely pathogenic
Select item 443536	GRCh37/hg19 13q12.12(chr13:23519916-24936848)x1	C1QTNF9, C1QTNF9B +6 more	Copy number loss	See cases	GLikely benign
Select item 443112	GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1	C1QTNF9, C1QTNF9B +6 more	Copy number loss	See cases	GLikely benign
Select item 442192	GRCh37/hg19 13q12.12(chr13:23519916-24928440)x1	C1QTNF9, C1QTNF9B +6 more	Copy number loss	See cases	GLikely benign
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	FGF9, FLT1 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	CRYL1, CSNK1A1L +332 more	Copy number gain	See cases	GPathogenic
Select item 393738	GRCh37/hg19 13q12.12(chr13:23671134-24896556)x1	C1QTNF9, C1QTNF9B +6 more	Copy number loss	See cases	GPathogenic
Select item 268071	GRCh37/hg19 13q12.12(chr13:23515553-24927971)x1	PCOTH, C1QTNF9B +6 more	Copy number loss	See cases	GLikely benign
Select item 253904	GRCh37/hg19 13q12.12(chr13:23671134-25009594)x3	TNFRSF19, C1QTNF9 +7 more	Copy number gain	See cases	GUncertain significance
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic
Select item 221857	GRCh37/hg19 13q12.12(chr13:23368834-24815661)x3	C1QTNF9B, MIPEP +5 more	Copy number gain	Premature ovarian failure	GBenign
Select item 208634	GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1	C1QTNF9, C1QTNF9B +6 more	Copy number loss	Cardiomyopathy +2 more	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 155130	GRCh38/hg38 13q12.11-12.13(chr13:19671934-24985872)x1	ATP12A, C1QTNF9 +181 more	Copy number loss	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	LOC126861730, LOC126861731 +489 more	Copy number gain	See cases	GPathogenic
Select item 151376	GRCh38/hg38 13q12.12(chr13:22959219-24384434)x3	C1QTNF9, C1QTNF9B +57 more	Copy number gain	See cases	GUncertain significance
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 151247	GRCh38/hg38 13q12.12(chr13:22943845-24336546)x3	C1QTNF9, C1QTNF9B +57 more	Copy number gain	See cases	GUncertain significance
Select item 151244	GRCh38/hg38 13q12.12(chr13:22980365-24336546)x3	C1QTNF9, C1QTNF9B +55 more	Copy number gain	See cases	GUncertain significance
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 149939	GRCh38/hg38 13q12.12(chr13:22943845-24355293)x3	C1QTNF9, C1QTNF9B +57 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 149152	GRCh38/hg38 13q12.12(chr13:22980365-24370481)x3	C1QTNF9, C1QTNF9B +55 more	Copy number gain	See cases	GUncertain significance

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