PAK1IP1[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995681, LOC129995682 +643 more	Copy number gain	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +612 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC129995778, LOC129995779 +559 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	SLC35B3, SMIM13 +510 more	Copy number gain	See cases	GLikely pathogenic
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	LOC129995802, LOC129995803 +573 more	Copy number gain	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	ADTRP, BLOC1S5 +537 more	Copy number gain	See cases	GPathogenic
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	ADTRP, ATXN1 +617 more	Copy number loss	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 146906	GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1	LOC129995677, LOC129995678 +331 more	Copy number loss	See cases	GPathogenic
Select item 155113	GRCh38/hg38 6p24.3-24.2(chr6:10542021-10810835)x1	C6orf52, GCNT2 +12 more	Copy number loss	See cases	GUncertain significance
Select item 149264	GRCh38/hg38 6p24.3-24.2(chr6:10542021-11058096)x1	C6orf52, ELOVL2 +23 more	Copy number loss	See cases	GUncertain significance
Select item 154343	GRCh38/hg38 6p24.2-23(chr6:10601499-13987316)x1	ADTRP, C6orf52 +154 more	Copy number loss	See cases	GPathogenic
Select item 3208038	NM_017906.3(PAK1IP1):c.56C>G (p.Pro19Arg)	PAK1IP1 (P19R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303965	NM_017906.3(PAK1IP1):c.92C>T (p.Thr31Ile)	PAK1IP1 (T31I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208033	NM_017906.3(PAK1IP1):c.108C>A (p.Phe36Leu)	PAK1IP1 (F36L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529315	NM_017906.3(PAK1IP1):c.112C>T (p.His38Tyr)	PAK1IP1 (H38Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557283	NM_017906.3(PAK1IP1):c.116A>G (p.His39Arg)	PAK1IP1 (H39R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609716	NM_017906.3(PAK1IP1):c.158G>C (p.Arg53Pro)	PAK1IP1 (R53P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524968	NM_017906.3(PAK1IP1):c.158G>A (p.Arg53His)	PAK1IP1 (R53H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609717	NM_017906.3(PAK1IP1):c.163G>T (p.Val55Leu)	PAK1IP1 (V55L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208034	NM_017906.3(PAK1IP1):c.196A>G (p.Ile66Val)	PAK1IP1 (I66V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208035	NM_017906.3(PAK1IP1):c.200A>G (p.Tyr67Cys)	PAK1IP1 (Y67C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307172	NM_017906.3(PAK1IP1):c.209A>G (p.Lys70Arg)	PAK1IP1 (K70R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208036	NM_017906.3(PAK1IP1):c.325G>C (p.Asp109His)	PAK1IP1 (D109H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220777	NM_017906.3(PAK1IP1):c.347T>C (p.Leu116Pro)	PAK1IP1 (L116P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303964	NM_017906.3(PAK1IP1):c.376G>T (p.Val126Leu)	PAK1IP1 (V126L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208037	NM_017906.3(PAK1IP1):c.412G>A (p.Ala138Thr)	PAK1IP1 (A138T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457757	NM_017906.3(PAK1IP1):c.482A>G (p.Lys161Arg)	PAK1IP1 (K161R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303963	NM_017906.3(PAK1IP1):c.568T>A (p.Tyr190Asn)	PAK1IP1 (Y190N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263154	NM_017906.3(PAK1IP1):c.979T>C (p.Ser327Pro)	PAK1IP1 (S327P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371117	NM_017906.3(PAK1IP1):c.1063A>T (p.Thr355Ser)	PAK1IP1 (T355S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462224	NM_017906.3(PAK1IP1):c.1158G>C (p.Lys386Asn)	PAK1IP1 (K386N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684439	GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3	ADTRP, BLOC1S5 +73 more	Copy number gain	not provided	GPathogenic
Select item 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 1808091	GRCh37/hg19 6p24.3-24.2(chr6:10487302-10708232)x1	C6orf52, GCNT2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1527221	GRCh37/hg19 6p24.2(chr6:10620217-10901049)	C6orf52, GCM2 +6 more	Copy number loss	not specified	GUncertain significance
Select item 1527220	GRCh37/hg19 6p24.3-22.3(chr6:8269414-17402660)	RBM24, RNF182 +35 more	Copy number gain	not specified	GLikely pathogenic
Select item 1421288	NC_000006.11:g.(?_10398650)_(10882026_?)dup	C6orf52, GCM2 +6 more	Duplication	not provided	GUncertain significance
Select item 1035633	NC_000006.11:g.(?_10556657)_(10775712_?)del	C6orf52, GCNT2 +4 more	Deletion	not provided	GUncertain significance
Select item 833506	NC_000006.12:g.(?_10393499)_(11010809_?)dup	GCNT2, MAK +8 more	Duplication	not provided	GUncertain significance
Select item 687409	GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3	ADTRP, ATXN1 +95 more	Copy number gain	not provided	GPathogenic
Select item 563158	GRCh37/hg19 6p24.3-24.2(chr6:10546386-10703938)x1	C6orf52, GCNT2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 563156	GRCh37/hg19 6p24.3-24.2(chr6:10471236-10728452)x1	C6orf52, GCNT2 +2 more	Copy number loss	not provided	GUncertain significance
Select item 563154	GRCh37/hg19 6p25.1-24.2(chr6:6990611-11276452)x1	BLOC1S5, BMP6 +23 more	Copy number loss	not provided	GPathogenic
Select item 563140	GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3	ADTRP, ATXN1 +93 more	Copy number gain	not provided	GPathogenic
Select item 563139	GRCh37/hg19 6p25.3-23(chr6:156974-13502033)x3	ADTRP, BLOC1S5 +66 more	Copy number gain	not provided	GPathogenic
Select item 560067	Single allele	ADTRP, ATXN1 +95 more	Duplication	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 253905	GRCh37/hg19 6p24.3-24.2(chr6:10489661-10725195)x1	C6orf52, GCNT2 +2 more	Copy number loss	See cases	GUncertain significance
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic
Select item 253511	GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1	BLOC1S5, BMP6 +60 more	Copy number loss	See cases	GPathogenic
Select item 253430	GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1	ADTRP, ATXN1 +51 more	Copy number loss	See cases	GPathogenic
Select item 219036	GRCh37/hg19 6p24.3-24.2(chr6:10490144-10724301)x1	C6orf52, GCNT2 +2 more	Copy number loss	See cases	GUncertain significance

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Items: 57