PNISR[gene] - ClinVar

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

Search results

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996786, LOC129996787 +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	COQ3, ASCC3 +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	CCNC, COQ3 +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 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 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 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 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 3062939	GRCh37/hg19 6q15-16.3(chr6:91677067-101879124)x3	FAXC, ASCC3 +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)	FBXL4, WASF1 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	CALHM4, PRDM13 +138 more	Copy number loss	not specified	GPathogenic
Select item 981211	GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1	AFG1L, AK9 +66 more	Copy number loss	Deletion 6q16 q21	GPathogenic
Select item 814851	GRCh37/hg19 6q16.1-16.2(chr6:98870687-100270433)x1	FBXL4, POU3F2 +7 more	Copy number loss	not provided	GLikely pathogenic
Select item 685975	GRCh37/hg19 6q16.1-16.2(chr6:99158119-100269911)x1	CCNC, COQ3 +7 more	Copy number loss	not provided	GUncertain significance
Select item 563210	GRCh37/hg19 6q16.2(chr6:99651077-100126178)x3	USP45, 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)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443296	GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1	AFG1L, AK9 +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

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: 64