27338[HGNC] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	LOC125146428, LOC125146429 +400 more	Copy number gain	See cases	GPathogenic
Select item 147965	GRCh38/hg38 16p12.3(chr16:19910619-20433405)x4	ACSM5, GP2 +5 more	Copy number gain	See cases	GUncertain significance
Select item 145632	GRCh38/hg38 16p12.3(chr16:20229045-20627132)x1	ACSM1, ACSM2A +6 more	Copy number loss	See cases	GUncertain significance
Select item 3210946	NM_174924.2(PDILT):c.1718T>G (p.Val573Gly)	PDILT (V573G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210945	NM_174924.2(PDILT):c.1714C>T (p.Pro572Ser)	PDILT (P572S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530582	NM_174924.2(PDILT):c.1711C>T (p.Pro571Ser)	PDILT (P571S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237649	NM_174924.2(PDILT):c.1700A>T (p.Lys567Met)	PDILT (K567M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479104	NM_174924.2(PDILT):c.1661A>G (p.Lys554Arg)	PDILT (K554R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210944	NM_174924.2(PDILT):c.1652C>T (p.Pro551Leu)	PDILT (P551L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473343	NM_174924.2(PDILT):c.1623G>T (p.Met541Ile)	PDILT (M541I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357160	NM_174924.2(PDILT):c.1604C>T (p.Ser535Leu)	PDILT (S535L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2270528	NM_174924.2(PDILT):c.1597C>G (p.Gln533Glu)	PDILT (Q533E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553925	NM_174924.2(PDILT):c.1490T>C (p.Ile497Thr)	PDILT (I497T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210942	NM_174924.2(PDILT):c.1405G>A (p.Gly469Ser)	PDILT (G469S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211242	NM_174924.2(PDILT):c.1392G>C (p.Arg464Ser)	PDILT (R464S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287010	NM_174924.2(PDILT):c.1316C>T (p.Thr439Ile)	PDILT (T439I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527359	NM_174924.2(PDILT):c.1279T>A (p.Leu427Met)	PDILT (L427M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384381	NM_174924.2(PDILT):c.1265T>A (p.Met422Lys)	PDILT (M422K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296529	NM_174924.2(PDILT):c.1219G>A (p.Asp407Asn)	PDILT (D407N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455457	NM_174924.2(PDILT):c.1195G>A (p.Val399Ile)	PDILT (V399I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2242533	NM_174924.2(PDILT):c.1180G>A (p.Gly394Arg)	PDILT (G394R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305534	NM_174924.2(PDILT):c.1177G>T (p.Val393Leu)	PDILT (V393L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455653	NM_174924.2(PDILT):c.1150T>C (p.Trp384Arg)	PDILT (W384R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315777	NM_174924.2(PDILT):c.1123C>G (p.Gln375Glu)	PDILT (Q375E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289825	NM_174924.2(PDILT):c.1091G>A (p.Arg364His)	PDILT (R364H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387444	NM_174924.2(PDILT):c.1090C>T (p.Arg364Cys)	PDILT (R364C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463619	NM_174924.2(PDILT):c.1043A>G (p.Lys348Arg)	PDILT (K348R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321110	NM_174924.2(PDILT):c.1012A>C (p.Ile338Leu)	PDILT (I338L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305540	NM_174924.2(PDILT):c.1009C>G (p.Gln337Glu)	PDILT (Q337E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225229	NM_174924.2(PDILT):c.969C>G (p.Phe323Leu)	PDILT (F323L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1301826	NM_174924.2(PDILT):c.854G>A (p.Ser285Asn)	PDILT (S285N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305536	NM_174924.2(PDILT):c.776T>A (p.Ile259Asn)	PDILT (I259N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456405	NM_174924.2(PDILT):c.740A>G (p.Asn247Ser)	PDILT (N247S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210951	NM_174924.2(PDILT):c.697C>T (p.Arg233Cys)	PDILT (R233C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408766	NM_174924.2(PDILT):c.664G>A (p.Val222Ile)	PDILT (V222I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2472329	NM_174924.2(PDILT):c.658G>A (p.Asp220Asn)	PDILT (D220N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209613	NM_174924.2(PDILT):c.655C>T (p.Leu219Phe)	PDILT (L219F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462051	NM_174924.2(PDILT):c.649G>A (p.Val217Ile)	PDILT (V217I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335121	NM_174924.2(PDILT):c.646C>T (p.His216Tyr)	PDILT (H216Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210950	NM_174924.2(PDILT):c.641G>A (p.Arg214His)	PDILT (R214H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472129	NM_174924.2(PDILT):c.640C>G (p.Arg214Gly)	PDILT (R214G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235270	NM_174924.2(PDILT):c.605C>T (p.Thr202Met)	PDILT (T202M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406247	NM_174924.2(PDILT):c.436G>A (p.Val146Ile)	PDILT (V146I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210949	NM_174924.2(PDILT):c.421T>C (p.Ser141Pro)	PDILT (S141P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401711	NM_174924.2(PDILT):c.416T>A (p.Val139Asp)	PDILT (V139D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2594599	NM_174924.2(PDILT):c.398T>G (p.Ile133Ser)	PDILT (I133S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305538	NM_174924.2(PDILT):c.380G>T (p.Gly127Val)	PDILT (G127V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408081	NM_174924.2(PDILT):c.356C>T (p.Pro119Leu)	PDILT (P119L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305539	NM_174924.2(PDILT):c.347C>T (p.Thr116Ile)	PDILT (T116I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396625	NM_174924.2(PDILT):c.289G>A (p.Gly97Ser)	PDILT (G97S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305535	NM_174924.2(PDILT):c.262A>T (p.Ile88Phe)	PDILT (I88F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363279	NM_174924.2(PDILT):c.236C>T (p.Ala79Val)	PDILT (A79V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285329	NM_174924.2(PDILT):c.236C>A (p.Ala79Glu)	PDILT (A79E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210948	NM_174924.2(PDILT):c.206A>G (p.Asn69Ser)	PDILT (N69S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364373	NM_174924.2(PDILT):c.182G>A (p.Arg61His)	PDILT (R61H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210947	NM_174924.2(PDILT):c.175C>A (p.Gln59Lys)	PDILT (Q59K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305537	NM_174924.2(PDILT):c.127C>T (p.Arg43Cys)	PDILT (R43C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210941	NM_174924.2(PDILT):c.116T>C (p.Ile39Thr)	PDILT (I39T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210939	NM_174924.2(PDILT):c.101C>T (p.Thr34Ile)	PDILT (T34I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210952	NM_174924.2(PDILT):c.92T>G (p.Ile31Ser)	PDILT (I31S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393041	NM_174924.2(PDILT):c.37G>A (p.Ala13Thr)	PDILT (A13T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1526505	GRCh37/hg19 16p12.3-12.2(chr16:20258837-21405328)	ERI2, GP2 +15 more	Copy number gain	not specified	GUncertain significance
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 443422	GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3	ACSM1, ACSM2A +128 more	Copy number gain	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 395601	GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3	ACSM1, ACSM2A +119 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 394788	GRCh37/hg19 16p12.3(chr16:20363600-20498071)x3	ACSM2A, ACSM5 +2 more	Copy number gain	See cases	GUncertain significance
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221513	GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3	ACSM1, ACSM2A +95 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 78