PNISR[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 58439	GRCh38/hg38 6q16.1-16.3(chr6:97853776-102580597)x1	ASCC3, CCNC +68 more	Copy number loss	See cases	GPathogenic
Select item 58440	GRCh38/hg38 6q16.1-16.3(chr6:98668529-101266950)x1	ASCC3, CCNC +53 more	Copy number loss	See cases	GPathogenic
Select item 154571	GRCh38/hg38 6q16.1-16.2(chr6:98770647-99813111)x1	CCNC, COQ3 +38 more	Copy number loss	See cases	GUncertain significance
Select item 560106	Single allele	COQ3, FAXC +28 more	Deletion	not provided	GUncertain significance
Select item 3215888	NM_032870.4(PNISR):c.2350G>A (p.Val784Met)	PNISR (V784M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3215887	NM_032870.4(PNISR):c.2345G>A (p.Arg782Gln)	PNISR (R782Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3215886	NM_032870.4(PNISR):c.2339G>A (p.Arg780Gln)	PNISR (R762Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3308125	NM_032870.4(PNISR):c.2260T>C (p.Ser754Pro)	PNISR (S754P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2461379	NM_032870.4(PNISR):c.2196A>G (p.Ile732Met)	PNISR (I714M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2344043	NM_032870.4(PNISR):c.2194A>G (p.Ile732Val)	PNISR (I714V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2303125	NM_032870.4(PNISR):c.2177C>G (p.Ser726Cys)	PNISR (S726C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3215885	NM_032870.4(PNISR):c.2133A>T (p.Leu711Phe)	PNISR (L711F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3308124	NM_032870.4(PNISR):c.2064G>C (p.Gln688His)	PNISR (Q688H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2496045	NM_032870.4(PNISR):c.2051G>A (p.Arg684Lys)	PNISR (R666K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2309107	NM_032870.4(PNISR):c.2011C>G (p.Arg671Gly)	PNISR (R653G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2293567	NM_032870.4(PNISR):c.1990G>A (p.Glu664Lys)	PNISR (E646K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2468477	NM_032870.4(PNISR):c.1936C>T (p.Arg646Cys)	PNISR (R646C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2243672	NM_032870.4(PNISR):c.1919G>A (p.Arg640His)	PNISR (R640H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2513964	NM_032870.4(PNISR):c.1864C>A (p.Arg622Ser)	PNISR (R604S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3215884	NM_032870.4(PNISR):c.1850G>A (p.Arg617His)	PNISR (R617H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2510762	NM_032870.4(PNISR):c.1826A>G (p.Asn609Ser)	PNISR (N609S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3215883	NM_032870.4(PNISR):c.1825A>G (p.Asn609Asp)	PNISR (N609D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2372605	NM_032870.4(PNISR):c.1790C>G (p.Ser597Cys)	PNISR (S579C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2248714	NM_032870.4(PNISR):c.1754A>G (p.Asn585Ser)	PNISR (N567S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2407246	NM_032870.4(PNISR):c.1735A>G (p.Arg579Gly)	PNISR (R561G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3215881	NM_032870.4(PNISR):c.1685G>T (p.Arg562Ile)	PNISR (R562I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3215880	NM_032870.4(PNISR):c.1630C>T (p.Arg544Cys)	PNISR (R526C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3215879	NM_032870.4(PNISR):c.1540A>G (p.Ser514Gly)	PNISR (S496G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2274146	NM_032870.4(PNISR):c.1461T>A (p.Asn487Lys)	PNISR (N469K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2370279	NM_032870.4(PNISR):c.1360G>C (p.Glu454Gln)	PNISR (E454Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3215878	NM_032870.4(PNISR):c.1232A>G (p.Asp411Gly)	LOC126859748, PNISR (D411G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603922	NM_032870.4(PNISR):c.1223C>T (p.Ser408Phe)	LOC126859748, PNISR (S390F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484069	NM_032870.4(PNISR):c.1213T>G (p.Ser405Ala)	LOC126859748, PNISR (S387A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308122	NM_032870.4(PNISR):c.1202G>A (p.Ser401Asn)	LOC126859748, PNISR (S401N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384546	NM_032870.4(PNISR):c.1088G>A (p.Arg363His)	PNISR (R363H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656780	NM_032870.4(PNISR):c.1038G>A (p.Leu346=)	PNISR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2612287	NM_032870.4(PNISR):c.860A>G (p.Lys287Arg)	PNISR (K287R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260553	NM_032870.4(PNISR):c.820G>A (p.Ala274Thr)	PNISR (A274T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215893	NM_032870.4(PNISR):c.755A>G (p.Glu252Gly)	PNISR (E252G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308123	NM_032870.4(PNISR):c.640G>A (p.Ala214Thr)	PNISR (A214T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533033	NM_032870.4(PNISR):c.581C>T (p.Pro194Leu)	PNISR (P194L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303282	NM_032870.4(PNISR):c.563C>T (p.Pro188Leu)	PNISR (P188L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215892	NM_032870.4(PNISR):c.524C>T (p.Pro175Leu)	PNISR (P175L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530585	NM_032870.4(PNISR):c.392G>T (p.Ser131Ile)	PNISR (S131I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2390826	NM_032870.4(PNISR):c.365C>T (p.Pro122Leu)	PNISR (P122L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3215891	NM_032870.4(PNISR):c.349A>G (p.Met117Val)	PNISR (M117V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3215890	NM_032870.4(PNISR):c.321G>C (p.Gln107His)	PNISR (Q107H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2543681	NM_032870.4(PNISR):c.318T>A (p.Asp106Glu)	PNISR (D106E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3215889	NM_032870.4(PNISR):c.310C>A (p.Pro104Thr)	PNISR (P104T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3308126	NM_032870.4(PNISR):c.224A>T (p.Asn75Ile)	PNISR (N75I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062939	GRCh37/hg19 6q15-16.3(chr6:91677067-101879124)x3	ASCC3, CCNC +20 more	Copy number gain	not specified	GUncertain significance
Select item 2685211	GRCh37/hg19 6q15-21(chr6:92468126-109410569)x1	AFG1L, ARMC2 +43 more	Copy number loss	not provided	GPathogenic
Select item 1807838	GRCh37/hg19 6q16.1-21(chr6:96596732-105554568)x1	ASCC3, BVES +21 more	Copy number loss	not provided	GPathogenic
Select item 1807814	GRCh37/hg19 6q16.1-21(chr6:96946110-106497526)x1	ASCC3, BVES +22 more	Copy number loss	not provided	GPathogenic
Select item 1807771	GRCh37/hg19 6q16.1-16.2(chr6:97904220-99964434)x1	COQ3, FAXC +4 more	Copy number loss	not provided	GLikely pathogenic
Select item 1527267	GRCh37/hg19 6q15-16.3(chr6:92576950-104658245)	ASCC3, CCNC +20 more	Copy number loss	not specified	GPathogenic
Select item 1527266	GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	AFG1L, AK9 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	AFG1L, AK9 +138 more	Copy number loss	not specified	GPathogenic
Select item 981211	GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1	PREP, QRSL1 +66 more	Copy number loss	Deletion 6q16 q21	GPathogenic
Select item 814851	GRCh37/hg19 6q16.1-16.2(chr6:98870687-100270433)x1	CCNC, COQ3 +7 more	Copy number loss	not provided	GLikely pathogenic
Select item 685975	GRCh37/hg19 6q16.1-16.2(chr6:99158119-100269911)x1	FAXC, FBXL4 +7 more	Copy number loss	not provided	GUncertain significance
Select item 563210	GRCh37/hg19 6q16.2(chr6:99651077-100126178)x3	COQ3, FAXC +5 more	Copy number gain	not provided	GUncertain significance
Select item 563204	GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1	AFG1L, AK9 +80 more	Copy number loss	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 443296	GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1	ZBTB24, AFG1L +49 more	Copy number loss	See cases	GPathogenic
Select item 442063	GRCh37/hg19 6q16.1-21(chr6:97384446-110247755)x1	AFG1L, AK9 +44 more	Copy number loss	See cases	GPathogenic

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Items: 69