17325[HGNC] - ClinVar

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

Search results

Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 221400	GRCh38/hg38 19q13.12(chr19:35778321-35862983)x1	ARHGAP33, KIRREL2 +4 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 2649760	NM_021232.2(PRODH2):c.1361G>A (p.Gly454Glu)	PRODH2 (G402E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2590120	NM_021232.2(PRODH2):c.1348C>T (p.Arg450Trp)	PRODH2 (R398W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249201	NM_021232.2(PRODH2):c.1309C>T (p.Arg437Cys)	PRODH2 (R385C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353175	NM_021232.2(PRODH2):c.1301A>T (p.Gln434Leu)	PRODH2 (Q382L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404149	NM_021232.2(PRODH2):c.1289G>A (p.Arg430Gln)	PRODH2 (R430Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537066	NM_021232.2(PRODH2):c.1280A>G (p.Gln427Arg)	PRODH2 (Q375R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289082	NM_021232.2(PRODH2):c.1276G>T (p.Ala426Ser)	PRODH2 (A374S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385610	NM_021232.2(PRODH2):c.1275G>C (p.Arg425Ser)	PRODH2 (R425S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219003	NM_021232.2(PRODH2):c.1271G>A (p.Arg424Gln)	PRODH2 (R372Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310284	NM_021232.2(PRODH2):c.1207G>A (p.Gly403Ser)	PRODH2 (R322Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391744	NM_021232.2(PRODH2):c.1131T>G (p.Ile377Met)	PRODH2 (I325M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546280	NM_021232.2(PRODH2):c.1116G>A (p.Met372Ile)	PRODH2 (M372I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310283	NM_021232.2(PRODH2):c.1097G>T (p.Arg366Leu)	PRODH2 (R314L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401882	NM_021232.2(PRODH2):c.1046A>G (p.His349Arg)	PRODH2 (H297R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2592560	NM_021232.2(PRODH2):c.1031C>T (p.Thr344Met)	PRODH2 (T344M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359031	NM_021232.2(PRODH2):c.1010G>A (p.Arg337His)	PRODH2 (R337H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310289	NM_021232.2(PRODH2):c.1009C>G (p.Arg337Gly)	PRODH2 (R285G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459637	NM_021232.2(PRODH2):c.1009C>T (p.Arg337Cys)	PRODH2 (R285C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052785	NM_021232.2(PRODH2):c.1001+8C>T	PRODH2	Single nucleotide variant (intron variant)	PRODH2-related disorder	GLikely benign
Select item 2471323	NM_021232.2(PRODH2):c.938C>T (p.Ala313Val)	PRODH2 (A313V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727451	NM_021232.2(PRODH2):c.910C>A (p.Arg304=)	PRODH2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3310291	NM_021232.2(PRODH2):c.904C>G (p.Leu302Val)	PRODH2 (L302V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300210	NM_021232.2(PRODH2):c.869C>A (p.Ala290Asp)	PRODH2 (A238D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285895	NM_021232.2(PRODH2):c.848G>A (p.Arg283Gln)	PRODH2 (R231Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387154	NM_021232.2(PRODH2):c.847C>T (p.Arg283Trp)	PRODH2 (R231W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358642	NM_021232.2(PRODH2):c.845A>T (p.Glu282Val)	PRODH2 (E230V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310287	NM_021232.2(PRODH2):c.818A>G (p.Tyr273Cys)	PRODH2 (Y273C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464591	NM_021232.2(PRODH2):c.791A>G (p.Glu264Gly)	PRODH2 (E264G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234554	NM_021232.2(PRODH2):c.785C>T (p.Pro262Leu)	PRODH2 (P262L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253323	NM_021232.2(PRODH2):c.772C>A (p.Arg258Ser)	PRODH2 (R258S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265882	NM_021232.2(PRODH2):c.701G>A (p.Arg234Gln)	PRODH2 (R234Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3047491	NM_021232.2(PRODH2):c.686G>A (p.Arg229Gln)	PRODH2 (R229Q)	Single nucleotide variant (missense variant +1 more)	PRODH2-related disorder	GLikely benign
Select item 3310286	NM_021232.2(PRODH2):c.622G>A (p.Ala208Thr)	PRODH2 (A208T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056564	NM_021232.2(PRODH2):c.599A>G (p.Asn200Ser)	PRODH2 (N200S)	Single nucleotide variant (missense variant)	PRODH2-related disorder	GBenign
Select item 2579207	GRCh38/hg38 19q13.12(chr19:35811865-35846292)x0	NPHS1, PRODH2	Copy number loss	Finnish congenital nephrotic syndrome	GPathogenic
Select item 3037535	NM_021232.2(PRODH2):c.590C>G (p.Ser197Cys)	PRODH2 (S197C)	Single nucleotide variant (missense variant)	PRODH2-related disorder	GLikely benign
Select item 2491972	NM_021232.2(PRODH2):c.550T>A (p.Leu184Met)	PRODH2 (L184M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768986	NM_021232.2(PRODH2):c.525G>A (p.Ser175=)	PRODH2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2361490	NM_021232.2(PRODH2):c.398G>A (p.Gly133Asp)	PRODH2 (G133D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325882	NM_021232.2(PRODH2):c.320C>T (p.Pro107Leu)	PRODH2 (P107L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310290	NM_021232.2(PRODH2):c.248A>G (p.Gln83Arg)	PRODH2 (Q83R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590550	NM_021232.2(PRODH2):c.233C>T (p.Ala78Val)	PRODH2 (A78V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219005	NM_021232.2(PRODH2):c.230G>A (p.Arg77Gln)	PRODH2 (R77Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219004	NM_021232.2(PRODH2):c.191G>A (p.Arg64Gln)	PRODH2 (R64Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2540099	NM_021232.2(PRODH2):c.191G>C (p.Arg64Pro)	PRODH2 (R64P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310281	NM_021232.2(PRODH2):c.166G>A (p.Gly56Arg)	PRODH2 (G56R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623402	NM_021232.2(PRODH2):c.165C>G (p.His55Gln)	PRODH2 (H55Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310288	NM_021232.2(PRODH2):c.107A>G (p.Glu36Gly)	PRODH2 (E36G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331358	NM_021232.2(PRODH2):c.52G>C (p.Gly18Arg)	PRODH2 (G18R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215418	NM_021232.2(PRODH2):c.8G>A (p.Arg3Gln)	PRODH2 (R3Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207282	NM_021232.2(PRODH2):c.8G>C (p.Arg3Pro)	PRODH2 (R3P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388096	NM_021232.2(PRODH2):c.7C>T (p.Arg3Trp)	PRODH2 (R3W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047438	NM_021232.2(PRODH2):c.-29C>T	PRODH2	Single nucleotide variant (5 prime UTR variant)	PRODH2-related disorder	GLikely benign
Select item 2306078	NM_021232.1(PRODH2):c.128A>T (p.Asn43Ile)	PRODH2 (N43I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053337	NM_021232.1(PRODH2):c.104C>T (p.Ala35Val)	PRODH2 (A35V)	Single nucleotide variant (missense variant)	PRODH2-related disorder	GLikely benign
Select item 3041011	NM_021232.1(PRODH2):c.72C>T (p.Thr24=)	PRODH2	Single nucleotide variant (synonymous variant)	PRODH2-related disorder	GLikely benign
Select item 3310282	NM_021232.1(PRODH2):c.29C>T (p.Ser10Leu)	PRODH2 (S10L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2207702	NM_021232.1(PRODH2):c.5C>T (p.Ser2Leu)	PRODH2 (S2L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3242311	GRCh37/hg19 19q13.11-13.12(chr19:35223021-36895699)x1	ALKBH6, APLP1 +63 more	Copy number loss	not provided	GPathogenic
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2671623	Single allele	ALKBH6, APLP1 +72 more	Deletion	not provided	GPathogenic
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	ALKBH6, APLP1 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 1412985	NC_000019.9:g.(?_35521725)_(36643309_?)del	ALKBH6, APLP1 +54 more	Deletion	Brugada syndrome 5	GUncertain significance
Select item 1340392	GRCh37/hg19 19q13.12(chr19:36019064-36516110)x3	ALKBH6, APLP1 +28 more	Copy number gain	not provided	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 625761	GRCh37/hg19 19q13.11-13.12(chr19:35043556-36316644)	ARHGAP33, ATP4A +44 more	Copy number loss	not provided	GPathogenic
Select item 625760	GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992)	ALKBH6, APLP1 +79 more	Copy number loss	Generalized epilepsy with febrile seizures plus, type 1	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442794	GRCh37/hg19 19q13.12(chr19:36147111-37249653)x1	ALKBH6, APLP1 +39 more	Copy number loss	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 75