PPP1R35[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC111674474, LOC111674475 +2212 more	Copy number gain	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	UFSP1, VGF +299 more	Copy number gain	See cases	GPathogenic
Select item 2579262	GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1	ACTL6B, AGFG2 +229 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	LOC129998966, LOC129998967 +309 more	Copy number loss	See cases	GPathogenic
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	CNPY4, COPS6 +227 more	Copy number loss	See cases	GPathogenic
Select item 149050	GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3	ACHE, ACTL6B +283 more	Copy number gain	See cases	GUncertain significance
Select item 60281	GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1	ACHE, ACTL6B +207 more	Copy number loss	See cases	GPathogenic
Select item 1704247	NM_145030.4(PPP1R35):c.753_*3delinsCG (p.Trp251fs)	PPP1R35 (W251fs)	Indel (3 prime UTR variant +1 more)	Progressive microcephaly	GPathogenic
Select item 2227045	NM_145030.4(PPP1R35):c.712T>G (p.Ser238Ala)	PPP1R35 (S238A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2376022	NM_145030.4(PPP1R35):c.632C>T (p.Pro211Leu)	PPP1R35 (P211L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2230795	NM_145030.4(PPP1R35):c.631C>T (p.Pro211Ser)	PPP1R35 (P211S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2314154	NM_145030.4(PPP1R35):c.607C>A (p.Pro203Thr)	PPP1R35 (A157D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1184358	NM_145030.4(PPP1R35):c.572del (p.Arg191fs)	PPP1R35 (R191fs)	Deletion (frameshift variant +1 more)	See cases	GUncertain significance
Select item 2475080	NM_145030.4(PPP1R35):c.536T>C (p.Leu179Pro)	PPP1R35 (L179P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525728	NM_145030.4(PPP1R35):c.493G>C (p.Val165Leu)	PPP1R35 (V165L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515463	NM_145030.4(PPP1R35):c.464C>G (p.Pro155Arg)	PPP1R35 (P155R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470962	NM_145030.4(PPP1R35):c.422G>C (p.Arg141Pro)	LOC129998941, PPP1R35 (R141P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477642	NM_145030.4(PPP1R35):c.410C>T (p.Ser137Leu)	LOC129998941, PPP1R35 (S137L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477714	NM_145030.4(PPP1R35):c.396A>C (p.Glu132Asp)	LOC129998941, PPP1R35 (E132D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568873	NM_145030.4(PPP1R35):c.380C>G (p.Ala127Gly)	LOC129998941, PPP1R35 (A127G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247552	NM_145030.4(PPP1R35):c.343G>A (p.Glu115Lys)	LOC129998941, PPP1R35 (E115K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249511	NM_145030.4(PPP1R35):c.293C>T (p.Pro98Leu)	LOC129998941, PPP1R35 (P98L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217613	NM_145030.4(PPP1R35):c.235G>A (p.Val79Ile)	LOC129998941, PPP1R35 (V79I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511023	NM_145030.4(PPP1R35):c.191A>G (p.Lys64Arg)	LOC129998941, PPP1R35 (K64R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591054	NM_145030.4(PPP1R35):c.151G>A (p.Asp51Asn)	LOC129998941, PPP1R35 (D51N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270226	NM_145030.4(PPP1R35):c.46G>A (p.Glu16Lys)	PPP1R35 (E16K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062972	GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	ACHE, ACTL6B +93 more	Copy number loss	not specified	GLikely pathogenic
Select item 2685256	GRCh37/hg19 7q22.1(chr7:99263437-100105272)x1	ZNF3, ZSCAN21 +32 more	Copy number loss	not provided	GUncertain significance
Select item 2685254	GRCh37/hg19 7q22.1(chr7:99114000-101878272)x1	CYP3A4, CYP3A43 +73 more	Copy number loss	not provided	GPathogenic
Select item 2424700	NC_000007.13:g.(?_98507659)_(100860555_?)dup	TRAPPC14, TRIM4 +79 more	Duplication	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527379	GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	ACHE, ACTL6B +123 more	Copy number loss	not specified	GPathogenic
Select item 1373858	NC_000007.13:g.(?_98983338)_(100860555_?)del	ACHE, ACTL6B +75 more	Deletion	not provided	GPathogenic
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 929826	GRCh37/hg19 7q22.1(chr7:99593346-102470275)x1	ACHE, ACTL6B +77 more	Copy number loss	See cases	GLikely pathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563415	GRCh37/hg19 7q22.1(chr7:98847725-102472176)x1	CYP3A43, GJC3 +99 more	Copy number loss	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 44