ClinVar for Gene (Select 117248) - ClinVar

Links from Gene

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3280611	NM_054110.5(GALNT15):c.271C>T (p.Arg91Trp)	GALNT15 (R91W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280609	NM_054110.5(GALNT15):c.1873C>T (p.Arg625Cys)	GALNT15 (R625C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3280608	NM_054110.5(GALNT15):c.355C>T (p.Leu119Phe)	GALNT15 (L119F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280607	NM_054110.5(GALNT15):c.812C>T (p.Ala271Val)	GALNT15 (A271V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280606	NM_054110.5(GALNT15):c.1094C>T (p.Pro365Leu)	GALNT15 (P365L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3098107	NM_054110.5(GALNT15):c.929C>T (p.Pro310Leu)	GALNT15 (P310L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098106	NM_054110.5(GALNT15):c.724C>G (p.Leu242Val)	GALNT15 (L242V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098105	NM_054110.5(GALNT15):c.707G>A (p.Gly236Glu)	GALNT15 (G236E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098104	NM_054110.5(GALNT15):c.626G>A (p.Arg209Gln)	GALNT15 (R209Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098103	NM_054110.5(GALNT15):c.625C>T (p.Arg209Trp)	GALNT15 (R209W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098101	NM_054110.5(GALNT15):c.540G>A (p.Leu180=)	GALNT15	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3098100	NM_054110.5(GALNT15):c.449C>T (p.Thr150Ile)	GALNT15 (T150I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098099	NM_054110.5(GALNT15):c.353G>A (p.Arg118His)	GALNT15 (R118H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098098	NM_054110.5(GALNT15):c.301T>G (p.Leu101Val)	GALNT15 (L101V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098097	NM_054110.5(GALNT15):c.1850T>C (p.Leu617Pro)	GALNT15 (L617P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098096	NM_054110.5(GALNT15):c.1643C>T (p.Thr548Ile)	GALNT15 (T548I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098095	NM_054110.5(GALNT15):c.1490A>T (p.Tyr497Phe)	GALNT15 (Y27F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098094	NM_054110.5(GALNT15):c.147C>A (p.Ser49Arg)	GALNT15 (S49R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098093	NM_054110.5(GALNT15):c.1316G>A (p.Arg439His)	GALNT15 (R439H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098092	NM_054110.5(GALNT15):c.1198G>A (p.Ala400Thr)	GALNT15 (A400T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098091	NM_054110.5(GALNT15):c.1160C>T (p.Ser387Leu)	GALNT15 (S387L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098089	NM_054110.5(GALNT15):c.1100A>G (p.Glu367Gly)	GALNT15 (E367G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3098088	NM_054110.5(GALNT15):c.1084C>A (p.Pro362Thr)	GALNT15 (P362T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098087	NM_054110.5(GALNT15):c.1064C>T (p.Pro355Leu)	GALNT15 (P355L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2617368	NM_054110.5(GALNT15):c.960C>A (p.Phe320Leu)	GALNT15 (F320L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615184	NM_054110.5(GALNT15):c.501C>G (p.Ile167Met)	GALNT15 (I167M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605678	NM_054110.5(GALNT15):c.1870G>A (p.Ala624Thr)	GALNT15 (A624T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593658	NM_054110.5(GALNT15):c.1646G>C (p.Ser549Thr)	GALNT15 (S549T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593499	NM_054110.5(GALNT15):c.1096G>A (p.Gly366Arg)	GALNT15 (G366R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590766	NM_054110.5(GALNT15):c.377A>G (p.Gln126Arg)	GALNT15 (Q126R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2569295	NM_054110.5(GALNT15):c.781C>G (p.Leu261Val)	GALNT15 (L261V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568827	NM_054110.5(GALNT15):c.616A>G (p.Thr206Ala)	GALNT15 (T206A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562488	NM_054110.5(GALNT15):c.1436G>C (p.Arg479Thr)	GALNT15 (R479T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559031	NM_054110.5(GALNT15):c.1618C>T (p.Arg540Trp)	GALNT15 (R540W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551841	NM_054110.5(GALNT15):c.173G>A (p.Arg58His)	GALNT15 (R58H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542354	NM_054110.5(GALNT15):c.676A>G (p.Ile226Val)	GALNT15 (I226V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537723	NM_054110.5(GALNT15):c.785G>A (p.Gly262Asp)	GALNT15 (G262D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532546	NM_054110.5(GALNT15):c.1412T>G (p.Met471Arg)	GALNT15 (M1R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526355	NM_054110.5(GALNT15):c.1637A>T (p.Gln546Leu)	GALNT15 (Q546L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518077	NM_054110.5(GALNT15):c.1619G>A (p.Arg540Gln)	GALNT15 (R70Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514352	NM_054110.5(GALNT15):c.898A>G (p.Ile300Val)	GALNT15 (I300V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491446	NM_054110.5(GALNT15):c.1366A>T (p.Ser456Cys)	GALNT15 (S456C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488453	NM_054110.5(GALNT15):c.38G>C (p.Arg13Thr)	GALNT15 (R13T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467638	NM_054110.5(GALNT15):c.409G>A (p.Ala137Thr)	GALNT15 (A137T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466135	NM_054110.5(GALNT15):c.583G>A (p.Val195Ile)	GALNT15 (V195I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457605	NM_054110.5(GALNT15):c.1810A>G (p.Met604Val)	GALNT15 (M604V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455435	NM_054110.5(GALNT15):c.1417C>T (p.Arg473Cys)	GALNT15 (R3C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454558	NM_054110.5(GALNT15):c.685G>A (p.Val229Met)	GALNT15 (V229M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454281	NM_054110.5(GALNT15):c.272G>A (p.Arg91Gln)	GALNT15 (R91Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412197	NM_054110.5(GALNT15):c.676A>T (p.Ile226Phe)	GALNT15 (I226F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395713	NM_054110.5(GALNT15):c.421G>A (p.Gly141Arg)	GALNT15 (G141R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388996	NM_054110.5(GALNT15):c.1287C>A (p.Asp429Glu)	GALNT15 (D429E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384100	NM_054110.5(GALNT15):c.691G>A (p.Asp231Asn)	GALNT15 (D231N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368922	NM_054110.5(GALNT15):c.1845G>T (p.Leu615Phe)	GALNT15 (L615F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366889	NM_054110.5(GALNT15):c.314G>A (p.Arg105Lys)	GALNT15 (R105K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343113	NM_054110.5(GALNT15):c.530G>A (p.Arg177Gln)	GALNT15 (R177Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327286	NM_054110.5(GALNT15):c.955A>G (p.Thr319Ala)	GALNT15 (T319A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326603	NM_054110.5(GALNT15):c.1409G>T (p.Cys470Phe)	GALNT15 (C470F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326094	NM_054110.5(GALNT15):c.1756C>T (p.His586Tyr)	GALNT15 (H586Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309201	NM_054110.5(GALNT15):c.304C>T (p.Pro102Ser)	GALNT15 (P102S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306067	NM_054110.5(GALNT15):c.331G>A (p.Gly111Ser)	GALNT15 (G111S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298880	NM_054110.5(GALNT15):c.562G>A (p.Asp188Asn)	GALNT15 (D188N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285003	NM_054110.5(GALNT15):c.652G>C (p.Val218Leu)	GALNT15 (V218L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276159	NM_054110.5(GALNT15):c.1414G>A (p.Glu472Lys)	GALNT15 (E472K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275275	NM_054110.5(GALNT15):c.859G>A (p.Glu287Lys)	GALNT15 (E287K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260946	NM_054110.5(GALNT15):c.917G>A (p.Arg306Gln)	GALNT15 (R306Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708466	GRCh37/hg19 3p25.1-24.2(chr3:13836340-25357427)x3	ANKRD28, BTD +41 more	Copy number gain	See cases	GPathogenic
Select item 1703229	Single allele	HDAC11, LOC126806611 +244 more	Deletion	3p- syndrome	GPathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 1340851	GRCh37/hg19 3p25.1-24.3(chr3:15085863-16402392)x3	ANKRD28, BTD +13 more	Copy number gain	not provided	GUncertain significance
Select item 980628	GRCh37/hg19 3p25.1(chr3:15822766-16235835)x3	GALNT15, ANKRD28	Copy number gain	not provided	GLikely benign
Select item 688733	GRCh37/hg19 3p25.1-24.3(chr3:15752529-16524171)x3	ANKRD28, DPH3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 562759	GRCh37/hg19 3p25.1(chr3:15648003-16355532)x3	ANKRD28, BTD +3 more	Copy number gain	not provided	GLikely benign
Select item 562744	GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3	ANKRD28, ARL8B +84 more	Copy number gain	not provided	GPathogenic
Select item 562726	GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3	ANKRD28, ARL8B +98 more	Copy number gain	not provided	GPathogenic
Select item 443469	GRCh37/hg19 3p25.1-24.3(chr3:13720222-17808236)x1	ANKRD28, BTD +27 more	Copy number loss	See cases	GLikely pathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic
Select item 155700	GRCh38/hg38 3p25.1-24.3(chr3:14360747-21656134)x4	LOC132088880, LOC132088882 +214 more	Copy number gain	See cases	GPathogenic
Select item 155336	GRCh38/hg38 3p25.1-24.3(chr3:15304910-16372771)x3	ANKRD28, BTD +43 more	Copy number gain	See cases	GLikely benign
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 152453	GRCh38/hg38 3p25.1(chr3:15806288-16201982)x3	ANKRD28, GALNT15 +10 more	Copy number gain	See cases	GLikely benign
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 93