ClinVar for Gene (Select 9692) - ClinVar

Links from Gene

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3375220	NC_000014.8:g.(35596818_35649875)_(35649984_35735932)dup	PRORP	Duplication	not specified	GUncertain significance
Select item 3338984	NC_000014.8:g.(35739803_35742640)_(35746829_?)dup	PRORP	Duplication	not specified	GUncertain significance
Select item 3310312	NM_014672.4(PRORP):c.187G>A (p.Ala63Thr)	PRORP, PRORP-PSMA6 (A63T)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3310311	NM_014672.4(PRORP):c.184A>G (p.Ile62Val)	PRORP, PRORP-PSMA6 (I62V)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3310310	NM_014672.4(PRORP):c.391T>G (p.Leu131Val)	PRORP, PRORP-PSMA6 (L36V +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3219075	NM_014672.4(PRORP):c.800A>G (p.Tyr267Cys)	PRORP, PRORP-PSMA6 (Y172C +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3219074	NM_014672.4(PRORP):c.640A>G (p.Ser214Gly)	PRORP, PRORP-PSMA6 (S119G +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3219073	NM_014672.4(PRORP):c.39G>C (p.Lys13Asn)	PRORP, PRORP-PSMA6 (K13N)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3219072	NM_014672.4(PRORP):c.311C>T (p.Ala104Val)	PRORP, PRORP-PSMA6 (A104V +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3219071	NM_014672.4(PRORP):c.266C>G (p.Ala89Gly)	PRORP, PRORP-PSMA6 (A89G)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 3219070	NM_014672.4(PRORP):c.250T>G (p.Phe84Val)	PRORP, PRORP-PSMA6 (F84V)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3219069	NM_014672.4(PRORP):c.229C>A (p.Gln77Lys)	PRORP, PRORP-PSMA6 (Q77K)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3219068	NM_014672.4(PRORP):c.176C>T (p.Thr59Met)	PRORP, PRORP-PSMA6 (T59M)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 3219067	NM_014672.4(PRORP):c.161A>G (p.Gln54Arg)	PRORP, PRORP-PSMA6 (Q54R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3219066	NM_014672.4(PRORP):c.155C>T (p.Ser52Phe)	PRORP, PRORP-PSMA6 (S52F)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3219065	NM_014672.4(PRORP):c.151A>G (p.Met51Val)	PRORP, PRORP-PSMA6 (M51V)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 3219064	NM_014672.4(PRORP):c.146A>G (p.Lys49Arg)	PRORP, PRORP-PSMA6 (K49R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3219063	NM_014672.4(PRORP):c.1375G>A (p.Glu459Lys)	PRORP, PRORP-PSMA6 (E459K +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3219062	NM_014672.4(PRORP):c.1319T>C (p.Leu440Pro)	PRORP, PRORP-PSMA6 (L345P +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3219061	NM_014672.4(PRORP):c.1192A>C (p.Ile398Leu)	PRORP, PRORP-PSMA6 (I303L +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3219060	NM_014672.4(PRORP):c.1155G>C (p.Lys385Asn)	PRORP, PRORP-PSMA6 (K13N +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3219059	NM_014672.4(PRORP):c.1046C>T (p.Ser349Leu)	PRORP, PRORP-PSMA6 (S333L +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 3219058	NM_014672.4(PRORP):c.1022C>T (p.Thr341Ile)	PRORP, PRORP-PSMA6 (T246I +1 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 3219057	NM_014672.4(PRORP):c.101C>A (p.Ala34Glu)	PRORP, PRORP-PSMA6 (A34E)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3065741	NM_014672.4(PRORP):c.176del (p.Thr59fs)	PRORP, PRORP-PSMA6 (T59fs)	Deletion (non-coding transcript variant +2 more)	Combined oxidative phosphorylation deficiency 54	GUncertain significance
Select item 3065718	NM_014672.4(PRORP):c.934C>T (p.Gln312Ter)	PRORP, PRORP-PSMA6 (Q217* +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Combined oxidative phosphorylation deficiency 54	GUncertain significance
Select item 3063339	GRCh37/hg19 14q13.1-13.2(chr14:35059946-35787671)x3	BAZ1A, CFL2 +6 more	Copy number gain	not specified	GUncertain significance
Select item 3063324	GRCh37/hg19 14q12-21.2(chr14:29190489-45325177)x1	AKAP6, AP4S1 +48 more	Copy number loss	not specified	GPathogenic
Select item 3063313	GRCh37/hg19 14q13.2(chr14:35360640-35936592)x3	FAM177A1, NFKBIA +4 more	Copy number gain	not specified	GUncertain significance
Select item 3060555	NM_014672.4(PRORP):c.1310A>G (p.Asn437Ser)	PRORP, PRORP-PSMA6 (N342S +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	PRORP-related disorder	GBenign
Select item 3043006	NM_014672.4(PRORP):c.686C>T (p.Ala229Val)	PRORP, PRORP-PSMA6 (A134V +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 3041805	NM_014672.4(PRORP):c.1002A>G (p.Gln334=)	PRORP, PRORP-PSMA6	Single nucleotide variant (non-coding transcript variant +3 more)	PRORP-related disorder	GLikely benign
Select item 3038940	NM_014672.4(PRORP):c.690G>A (p.Leu230=)	PRORP, PRORP-PSMA6	Single nucleotide variant (non-coding transcript variant +2 more)	PRORP-related disorder	GLikely benign
Select item 2685483	GRCh37/hg19 14q13.2(chr14:35561562-35723514)x1	PPP2R3C, PRORP	Copy number loss	not provided	GUncertain significance
Select item 2685482	GRCh37/hg19 14q13.1-13.3(chr14:34585231-37477843)x1	BAZ1A, BRMS1L +19 more	Copy number loss	not provided	GPathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2644164	NM_014672.4(PRORP):c.228G>A (p.Lys76=)	PRORP, PRORP-PSMA6	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2613049	NM_017917.4(PPP2R3C):c.38C>T (p.Thr13Met)	LOC126861916, PPP2R3C +2 more (T13M)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2608110	NM_014672.4(PRORP):c.1475A>C (p.His492Pro)	PRORP, PRORP-PSMA6 (H120P +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2594898	NM_014672.4(PRORP):c.1380G>A (p.Met460Ile)	PRORP, PRORP-PSMA6 (M365I +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2561330	NM_014672.4(PRORP):c.426T>G (p.Ser142Arg)	PRORP, PRORP-PSMA6 (S142R +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 2548034	NM_014672.4(PRORP):c.1201C>T (p.Arg401Cys)	PRORP, PRORP-PSMA6 (R306C +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2536027	NM_014672.4(PRORP):c.703G>A (p.Asp235Asn)	PRORP, PRORP-PSMA6 (D235N +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2513514	NM_014672.4(PRORP):c.1333C>T (p.Arg445Trp)	PRORP, PRORP-PSMA6 (R429W +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2510301	NM_014672.4(PRORP):c.1202G>A (p.Arg401His)	PRORP, PRORP-PSMA6 (R29H +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2479162	NM_014672.4(PRORP):c.437C>T (p.Ser146Leu)	PRORP, PRORP-PSMA6 (S146L +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2424631	NC_000014.8:g.(?_35182071)_(35873850_?)del	BAZ1A, CFL2 +6 more	Deletion	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 1879292	GRCh37/hg19 14q13.1-13.3(chr14:34904407-36784136)x1	BAZ1A, BRMS1L +14 more	Copy number loss	not provided	GPathogenic
Select item 1878503	NM_014672.4(PRORP):c.1093T>C (p.Tyr365His)	PRORP, PRORP-PSMA6 (Y270H +2 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 54	GUncertain significance
Select item 1878502	NM_014672.4(PRORP):c.1241C>T (p.Ala414Val)	PRORP, PRORP-PSMA6 (A398V +3 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 54	GPathogenic/Likely pathogenic
Select item 1878501	NM_014672.4(PRORP):c.1159A>G (p.Thr387Ala)	PRORP, PRORP-PSMA6 (T292A +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Combined oxidative phosphorylation deficiency 54	GPathogenic/Likely pathogenic
Select item 1705405	NM_014672.4(PRORP):c.1505G>A (p.Arg502Gln)	PRORP, PRORP-PSMA6 (R130Q +3 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 54	GUncertain significance
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1685043	NM_014672.4(PRORP):c.16_19del (p.Phe6fs)	PRORP, PRORP-PSMA6 (F6fs)	Microsatellite (frameshift variant +1 more)	not specified	GUncertain significance
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1327440	NM_017917.4(PPP2R3C):c.-9A>G	PRORP, LOC126861916 +2 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 1292049	NM_014672.4(PRORP):c.1261C>T (p.Arg421Cys)	PRORP, PRORP-PSMA6 (R326C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1292048	NM_014672.4(PRORP):c.1301C>A (p.Ala434Asp)	PRORP, PRORP-PSMA6 (A339D +3 more)	Single nucleotide variant (missense variant)	PRORP-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1292047	NM_014672.4(PRORP):c.1235A>G (p.Asn412Ser)	PRORP, PRORP-PSMA6 (N317S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1047865	GRCh37/hg19 14q13.1-21.2(chr14:33608925-44570367)	BAZ1A, BRMS1L +33 more	Copy number loss	Poor motor coordination	GPathogenic
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815638	GRCh37/hg19 14q13.2(chr14:35395019-35783469)x3	PPP2R3C, FAM177A1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 687228	GRCh37/hg19 14q13.2(chr14:35724243-35850214)x3	PRORP, PSMA6	Copy number gain	not provided	GUncertain significance
Select item 638210	NM_014672.4(PRORP):c.1197dup (p.Ser400fs)	PRORP, PRORP-PSMA6 (S28fs +3 more)	Duplication (frameshift variant)	Combined oxidative phosphorylation deficiency 54 +9 more	GPathogenic/Likely pathogenic
Select item 638209	NM_014672.4(PRORP):c.1334G>A (p.Arg445Gln)	PRORP, PRORP-PSMA6 (R445Q +3 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 54 +9 more	GPathogenic/Likely pathogenic
Select item 638208	NM_014672.4(PRORP):c.1454C>T (p.Ala485Val)	PRORP, PRORP-PSMA6 (A485V +3 more)	Single nucleotide variant (missense variant)	Perrault syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 564117	GRCh37/hg19 14q13.1-13.2(chr14:35232984-35652742)x3	SRP54, BAZ1A +3 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 394153	GRCh37/hg19 14q13.2(chr14:35734798-35784055)x3	PRORP, PSMA6	Copy number gain	See cases	Gconflicting data from submitters
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 154996	GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1	LOC126861917, LOC126861918 +225 more	Copy number loss	See cases	GPathogenic
Select item 154632	GRCh38/hg38 14q13.2(chr14:35109816-35151026)x1	LOC101927178, LOC126861916 +3 more	Copy number loss	See cases	GBenign
Select item 154467	GRCh38/hg38 14q13.1-13.3(chr14:33762166-36191750)x1	BAZ1A, BAZ1A-AS1 +88 more	Copy number loss	See cases	GUncertain significance
Select item 154047	GRCh38/hg38 14q13.1-21.1(chr14:33880412-42359485)x1	BAZ1A, BAZ1A-AS1 +156 more	Copy number loss	See cases	GPathogenic
Select item 151240	GRCh38/hg38 14q13.2(chr14:35068276-35231604)x3	FAM177A1, LOC101927178 +5 more	Copy number gain	See cases	GLikely benign
Select item 148775	GRCh38/hg38 14q13.2-21.2(chr14:35068276-43994777)x1	BRMS1L, CLEC14A +113 more	Copy number loss	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 146008	GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1	AKAP6, AP4S1 +179 more	Copy number loss	See cases	GPathogenic
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 58523	GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3	INSM2, KLHL28 +237 more	Copy number gain	See cases	GPathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 86